ammonium hydroxide has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 295 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Urea cycle disorders with hyperammonemia remain difficult to treat and eventually necessitate liver transplantation." | 8.12 | Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. ( Burczynski, ME; Chen, H; Cheng, X; Halasz, G; Kim, S; Lin, AZ; Mao, X; Murphy, AJ; Na, E; Okamoto, H; Sleeman, MW, 2022) |
| "Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease." | 5.38 | Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. ( Choi, DE; Lee, KW; Na, KR; Shin, YT, 2012) |
| "This coma was associated with an ammonia blood level of 344 mumol l-1 and it rapidly lead to cerebral death despite a symptomatic treatment." | 5.31 | [Fulminant coma: think hyperammonemia and urea cycle disorders]. ( Augris, C; Benabdelmalek, F; Caramella, JP; Jouvet, P; Vauquelin, P, 2002) |
| "These findings suggest the diagnosis of ornithine transcarbamylase deficiency." | 5.29 | Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency. ( Donati, MA; Filippi, L; Resti, M; Zammarchi, E, 1996) |
| "We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia." | 5.12 | Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. ( Berry, GT; Berry, SA; Brusilow, SW; Enns, GM; Hamosh, A; Rhead, WJ, 2007) |
| "Arginine treatment is able to reduces attacks of hyperammonemia in boys with late-onset OTCD and to increase their growth." | 5.12 | Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency. ( Adachi, M; Kanazawa, M; Kobayashi, K; Kubota, M; Kurokawa, K; Murakami, T; Murayama, K; Nagasaka, H; Ogawa, A; Ogawa, E; Takatani, T; Takayanagi, M; Yamamoto, S; Yorifuji, T, 2006) |
| " Urea cycle disorders with hyperammonemia remain difficult to treat and eventually necessitate liver transplantation." | 4.12 | Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. ( Burczynski, ME; Chen, H; Cheng, X; Halasz, G; Kim, S; Lin, AZ; Mao, X; Murphy, AJ; Na, E; Okamoto, H; Sleeman, MW, 2022) |
| "Ornithine transcarbamylase deficiency (OTCD) is pleomorphic congenital hyperammonemia, in which the prognosis of the patient is determined both by genotype and environmental factors." | 3.96 | Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency. ( Cai, YN; Jiang, MY; Li, XZ; Lin, YT; Liu, L; Mei, HF; Peng, MZ; Shao, YX; Sheng, HY; Su, L; Yin, X, 2020) |
| "Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death." | 3.88 | Prenatal treatment of ornithine transcarbamylase deficiency. ( Akula, VP; Alcorn, D; Benitz, WE; Bernstein, JA; Berquist, WE; Blumenfeld, YJ; Castillo, RO; Concepcion, W; Cowan, TM; Cox, KL; Cusmano, K; Enns, GM; Esquivel, CO; Hintz, SR; Homeyer, M; Hudgins, L; Hurwitz, M; Lyell, DJ; Palma, JP; Schelley, S; Summar, ML; Wilnai, Y, 2018) |
| "We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma." | 3.67 | Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. ( Batshaw, ML; Brusilow, SW; Mellits, ED; Msall, M; Suss, R, 1984) |
| "Metabolic observations during early stages of hyperammonemia in two infants with ornithine transcarbamylase deficiency suggest that plasma alpha-ketoglutarate concentration ([alpha-KG]) becomes subnormal before the development of hyperammonemic coma." | 3.66 | Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. ( Batshaw, ML; Brusilow, SW; Walser, M, 1980) |
| "Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate." | 3.66 | Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. ( Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L, 1982) |
| "To determine the influence on postoperative hepatic mass, body weight, ammonia clearance, hepatic urea cycle enzyme activity, and hepatic protein metabolism, 59 dogs were divided into six experimental groups: sham operation end-to-side portacaval shunt, mesocaval shunt with subsequent end-to-side portacaval shunt, distal splenorenal shunt, caval left portal shunt, and portal venous seqregation with juglar vein interposition." | 3.65 | The mechanism of postshunt liver failure. ( Chang, KH; Rao, NS; Reichle, FA; Reichle, RM, 1977) |
| "Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness." | 3.65 | Congenital hyperammonemic syndromes. ( Shih, VE, 1976) |
| "A detailed workup revealed acquired ornithine transcarbamylase deficiency." | 2.82 | Refractory Hyperammonemic encephalopathy in Fibrolamellar hepatocellular carcinoma, a case report and literature review. ( Ahmed, A; Ata, F; Gaber, M; Hashim, A; Mahfouz, A; Musa, S; Petkar, M; Schirmacher, P, 2022) |
| "Girls with symptomatic ornithine transcarbamylase deficiency who are treated with drugs that activate new pathways of waste-nitrogen excretion have fewer hyperammonemic episodes and a reduced risk of further cognitive decline." | 2.68 | Long-term treatment of girls with ornithine transcarbamylase deficiency. ( Bassett, SS; Brusilow, SW; Clissold, DB; Maestri, NE, 1996) |
| "Gene therapy for OTC deficiency is effective in animals, and work is ongoing to improve persistence and safety." | 2.45 | Ammonia toxicity and its prevention in inherited defects of the urea cycle. ( Walker, V, 2009) |
| " Drug treatment using chronic administration of sodium benzoate has been abandoned by some centers, but the acceptability of phenylbutyrate is an issue for many patients." | 2.42 | Problems in the management of urea cycle disorders. ( Wilcken, B, 2004) |
| "Ornithine transcarbamylase deficiency is an X-linked disorder which results in the accumulation of ammonia causing irritability and vomiting." | 1.91 | Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate. ( Fuchigami, T; Iwata, Y; Katagiri, J; Yoshida, H, 2023) |
| "The most prevalent UCD detected were ornithine transcarbamylase deficiency, followed by citrullinemia type 1, hyperargininemia, carbamoyl phosphate synthase 1 deficiency, and argininosuccinic aciduria." | 1.72 | Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy. ( de Moura Coelho, D; Dos Reis, BG; Faverzani, JL; Lopes, FF; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M, 2022) |
| "BACKGROUND Ornithine transcarbamylase deficiency (OTCD) is an X-linked semi-dominant disorder, causing possible fatal hyperammonemia." | 1.72 | Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment. ( Kakiuchi, T; Kurogi, K; Nishi, TM; Tago, M; Yamamoto, S; Yamashita, S; Yamashita, SI, 2022) |
| "Fibrolamellar hepatocellular carcinoma (FLHCC) is a rare liver cancer affecting adolescents and young adults without any pre existing liver disease." | 1.62 | Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers. ( Han, N; Jin, HY; Kim, SH; Ko, JM; Lee, JA; Lee, JS; Park, BK; Park, HJ; Park, M, 2021) |
| "She was diagnosed with ornithine transcarbamylase deficiency (OTCD) by analyses of plasma amino acids, urinary orotic acid, and the OTC gene mutation." | 1.51 | Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency. ( Harada, M; Hiura, M; Honma, Y; Ishii, M; Koya, Y; Matsumoto, S; Senju, M; Shibata, M, 2019) |
| "To characterize seizures and evaluate the utility of continuous EEG recording during hyperammonemia due to inborn errors of metabolism." | 1.48 | The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. ( Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N, 2018) |
| "Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle." | 1.39 | Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. ( Chuzhanova, N; Dvorakova, L; Hrebicek, M; Jirsa, M; Luksan, O; Majer, F; Peskova, K; Storkanova, G; Stranecky, V; Vlaskova, H; Zeman, J, 2013) |
| "The most common UCD was ornithine transcarbamylase deficiency (OTCD), which accounted for 116 out of 177 patients." | 1.38 | Long-term outcome and intervention of urea cycle disorders in Japan. ( Endo, F; Horikawa, R; Kasahara, M; Kido, J; Matsuo, M; Mitsubuchi, H; Nakamura, K; Ohura, T; Shigematsu, Y; Takayanagi, M; Yorifuji, T; Yoshino, M, 2012) |
| "Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease." | 1.38 | Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. ( Choi, DE; Lee, KW; Na, KR; Shin, YT, 2012) |
| "One child with prenatally diagnosed ornithine transcarbamylase deficiency died after 4 months from a fatal metabolic decompensation." | 1.35 | One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects. ( Bertram, H; Burlina, A; Das, AM; Engelmann, G; Hoerster, F; Hoffmann, GF; Kriegbaum, H; Lindner, M; Luecke, T; Meyburg, J; Ott, M; Pettenazzo, A; Schmidt, J, 2009) |
| "Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance." | 1.34 | Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. ( Chan, GC; Kwong, NS; Lam, CW; Lau, KY; Li, SK; Low, LC; Mak, CM; Poon, GW; Siu, TS; Tam, S; Tang, NL; Wong, KY, 2007) |
| "Urea entry rate was determined in Otc(spf-ash) and littermate controls employing a primed-continuous infusion of 15N15N urea." | 1.33 | Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice. ( Garlick, PJ; Lee, B; Marini, JC, 2006) |
| "Female carriers of ornithine transcarbamylase deficiency (OTCD) have nearly normal rates of total urea synthesis, but they derive less urea from systemic glutamine amide nitrogen than do healthy persons." | 1.32 | Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers. ( Garlick, P; Henry, J; Lee, B; Marini, J; Reeds, P; Rosenberger, J; Scaglia, F, 2003) |
| "This coma was associated with an ammonia blood level of 344 mumol l-1 and it rapidly lead to cerebral death despite a symptomatic treatment." | 1.31 | [Fulminant coma: think hyperammonemia and urea cycle disorders]. ( Augris, C; Benabdelmalek, F; Caramella, JP; Jouvet, P; Vauquelin, P, 2002) |
| "Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood." | 1.31 | Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. ( Burlina, AB; Korall, H; Ogier, H; Trefz, FK, 2001) |
| "In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15 %." | 1.30 | Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient. ( Böker, K; Heringlake, S; Manns, M, 1997) |
| "Ornithine transcarbamylase deficiency is an X linked disorder and the most common inherited cause of hyperammonaemia." | 1.30 | Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency. ( Kohlschütter, A; Oechsner, M; Steen, C; Stürenburg, HJ, 1998) |
| "By far the most common disorder was OTC deficiency, accounting for 2/3 of all cases." | 1.30 | Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( Endo, F; Matsuda, I; Uchino, T, 1998) |
| "Initial symptoms of OTC deficiency were nonspecific and included feeding difficulties, lethargy, and "respiratory distress"; vomiting was infrequent." | 1.30 | Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. ( Brusilow, SW; Clissold, D; Maestri, NE, 1999) |
| "Late-onset OTC deficiency has been described in patients of all ages." | 1.29 | Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency. ( Myers, JH; Shook, JE, 1996) |
| "We suggest that OTC deficiency should be suspected in any patient who presents with hyperammonia in the presence of otherwise normal liver function." | 1.29 | A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. ( Horn, M; Krieger, D; Schimanski, U; Stremmel, W; Theilmann, L; Wermuth, B, 1996) |
| "Heterozygous ornithine transcarbamylase deficiency was diagnosed based on a positive allopurinol tolerance test result after elevated levels of plasma glutamine and low plasma citrulline were detected." | 1.29 | Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. ( Boyer, JL; Brusilow, SW; Felig, DM, 1995) |
| "OTC deficiency is an X-linked genetic disorder, usually causing neonatal or infantile hyperammonemia, coma and death." | 1.29 | Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency. ( Hou, JW; Wang, TR, 1996) |
| "Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic." | 1.29 | Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. ( Blaser, S; Clarke, JT; Pridmore, CL, 1995) |
| "We describe here two patients with OTC deficiency, one a late on-set female patient (case 1) and the other a neonatal-onset male patient (case 2), who were successfully treated with orthotopic liver transplantation (OLTx)." | 1.29 | Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. ( Finegold, DN; Hasegawa, T; Nour, B; Reyes, J; Starzl, TE; Todo, S; Tzakis, AG, 1995) |
| "A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma." | 1.29 | Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. ( Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB, 1996) |
| "X-linked ornithine transcarbamylase deficiency (OTCD) often leads to fatal neonatal hyperammonemia in affected males (hemizygotes)." | 1.29 | Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. ( Fries, MH; Jurecki, E; Kuller, JA; Packman, S, 1994) |
| "Two male probands with "late onset" OTC deficiency, whose "private" mutations were previously characterized, inherited the mutations form their heterozygous mothers." | 1.29 | Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. ( Holzknecht, RA; Tsai, MY; Tuchman, M, 1993) |
| "These findings suggest the diagnosis of ornithine transcarbamylase deficiency." | 1.29 | Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency. ( Donati, MA; Filippi, L; Resti, M; Zammarchi, E, 1996) |
| "Women with heterozygous ornithine transcarbamylase deficiency may have no symptoms or have episodic, symptomatic hyperammonemia, which can be fatal." | 1.28 | Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy. ( Callahan, K; Evans, B; Honeycutt, D; Rutledge, L, 1992) |
| "Since genetic counselling for OTC deficiency is frequently difficult, molecular screening directed towards specific sites of the coding sequence could allow rapid detection of mutant genotypes and help solve diagnostic problems, especially when carrier status cannot be clarified easily." | 1.28 | Site specific screening for point mutations in ornithine transcarbamylase deficiency. ( Briand, P; Farriaux, JP; Feldmann, D; Hentzen, D; Hubert, P; Largilliere, C; Munnich, A; Pelet, A; Rabier, D; Rozet, JM, 1992) |
| "Assay ornithine transcarbamylase deficiency had normal results." | 1.28 | An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( Marsden, D; Nyhan, WL; Roschinger, W; Sege-Petersen, K; Sweetman, L, 1992) |
| "Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes." | 1.28 | Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. ( Berthelot, J; Feldman, D; Hentzen, D; Munnich, A; Pelet, A; Rabier, D, 1991) |
| "The patient had a brother with OTC deficiency who had died of hyperammonemia at 17 years of age." | 1.28 | [Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report]. ( Fujimoto, K; Fukuizumi, H; Ishibashi, H; Kudo, J; Kumashiro, T; Niho, Y; Shimamura, R; Taniyama, T, 1990) |
| "At this time, Reye's syndrome was suspected because of the acute change of consciousness and the presence of hyperammonemia." | 1.28 | A case of ornithine transcarbamylase deficiency with acute and late onset simulating Reye's syndrome in an adult male. ( Mizoguchi, K; Ogata, M; Onizuka, S; Sukehiro, K; Watanabe, J; Yoshida, I; Yoshino, M, 1990) |
| "In Europe Reye's syndrome is a rather rare but often fatal disease affecting children and teenagers." | 1.27 | [Reye syndrome--a status review of current concepts of its pathogenesis]. ( Plauth, M, 1984) |
| "B6 status in a patient with OTC deficiency during the therapy with benzoate." | 1.27 | Activity of the glycine cleavage system in hyperammonemia treated with benzoate. ( Fujiwara, K; Kamoshita, S; Kodama, H; Motokawa, Y; Nose, O; Tajiri, H, 1983) |
| "A male infant with ornithine transcarbamylase deficiency developed massive neonatal hyperammonemia and was treated with peritoneal dialysis." | 1.27 | Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia. ( Kulovich, S; Nyhan, WL; Shumacher, AE; Wolff, J, 1985) |
| "In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis." | 1.27 | DNA analysis of ornithine transcarbamylase deficiency. ( Bachmann, C; Schmidtke, J; Wendel, U; Wilichowski, E, 1988) |
| "We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome." | 1.27 | A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. ( Batshaw, ML; Hyman, SL, 1986) |
| "Carnitine status was evaluated in 12 patients with hyperammonemic attacks caused by a deficiency in ornithine transcarbamylase." | 1.27 | Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency. ( Matsuda, I; Ohtani, Y; Ohyanagi, K; Yamamoto, S, 1988) |
| " In the child, when the benzoate/phenylacetate dosage was increased from 200 to 375 mg/kg/day each, feeding decreased." | 1.27 | Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse. ( Batshaw, ML; Coyle, JT; Hyman, SL; Mellits, ED; Quaskey, S; Qureshi, IA; Robinson, MB, 1988) |
| "Since Reye's syndrome is associated with hyperammonemia, we measured the urea-cycle enzymes in hepatic tissue of 13 patients." | 1.26 | Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome. ( Bove, K; Brown, H; Brown, T; Hug, G; Lansky, L; Lloyd-Still, J; Partin, JC; Ryan, M; Scheve, A; Schubert, WK, 1976) |
| "OTC deficiency was diagnosed on the basis of: 1) decreased enzyme activity in leukocytes;2) hyperammonemia in response to protein intakes in excess of 2." | 1.26 | Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. ( Bachmann, C; Cejka, J; Gronemeyer, WH; Krieger, I, 1976) |
| "The hyperammonemia of Reye's syndrome apparently results from excess waste nitrogen that overwhelms the ability of reduced ornithine transcarbamylase (and occasionally carbamyl phosphate synthetase) to detoxify the ammonia load." | 1.26 | Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome. ( DeLong, GR; Snodgrass, PJ, 1976) |
| "A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described." | 1.26 | [A new family with mutation of the structural gene of human ornithine carbamoyltransferase]. ( Bieth, R; Dreyfus, J; Flori, E; Levy, JM; Lutz, P; Stoll, C, 1978) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 126 (42.71) | 18.7374 |
| 1990's | 105 (35.59) | 18.2507 |
| 2000's | 30 (10.17) | 29.6817 |
| 2010's | 20 (6.78) | 24.3611 |
| 2020's | 14 (4.75) | 2.80 |
| Authors | Studies |
|---|---|
| Mao, X | 1 |
| Chen, H | 1 |
| Lin, AZ | 1 |
| Kim, S | 1 |
| Burczynski, ME | 1 |
| Na, E | 2 |
| Halasz, G | 1 |
| Sleeman, MW | 1 |
| Murphy, AJ | 1 |
| Okamoto, H | 2 |
| Cheng, X | 2 |
| Ahmed, A | 1 |
| Ata, F | 1 |
| Gaber, M | 1 |
| Petkar, M | 1 |
| Mahfouz, A | 1 |
| Schirmacher, P | 1 |
| Musa, S | 1 |
| Hashim, A | 1 |
| Fukui, K | 1 |
| Takahashi, T | 1 |
| Matsunari, H | 1 |
| Uchikura, A | 1 |
| Watanabe, M | 1 |
| Nagashima, H | 1 |
| Ishihara, N | 1 |
| Kakuma, T | 1 |
| Watanabe, Y | 2 |
| Yamashita, Y | 1 |
| Yoshino, M | 7 |
| Jin, X | 1 |
| Zeng, X | 1 |
| Zhao, D | 1 |
| Jiang, N | 1 |
| Lopes, FF | 1 |
| Sitta, A | 1 |
| de Moura Coelho, D | 1 |
| Ribas, GS | 1 |
| Faverzani, JL | 1 |
| Dos Reis, BG | 1 |
| Wajner, M | 1 |
| Vargas, CR | 1 |
| Belanger, AJ | 1 |
| Gefteas, E | 1 |
| Przybylska, M | 1 |
| Geller, S | 1 |
| Anarat-Cappillino, G | 1 |
| Kloss, A | 1 |
| Yew, NS | 1 |
| Yamamoto, S | 4 |
| Yamashita, S | 1 |
| Kakiuchi, T | 1 |
| Kurogi, K | 1 |
| Nishi, TM | 1 |
| Tago, M | 1 |
| Yamashita, SI | 1 |
| Yoshida, H | 1 |
| Iwata, Y | 1 |
| Fuchigami, T | 1 |
| Katagiri, J | 1 |
| Zhou, D | 1 |
| Shang, X | 1 |
| Qiao, Y | 1 |
| Cheng, Y | 1 |
| Yu, Z | 1 |
| Huang, X | 1 |
| Peng, MZ | 1 |
| Li, XZ | 1 |
| Mei, HF | 1 |
| Sheng, HY | 1 |
| Yin, X | 1 |
| Jiang, MY | 1 |
| Cai, YN | 1 |
| Su, L | 1 |
| Lin, YT | 1 |
| Shao, YX | 1 |
| Liu, L | 1 |
| Lee, JS | 1 |
| Jin, HY | 1 |
| Ko, JM | 1 |
| Kim, SH | 1 |
| Han, N | 1 |
| Park, BK | 1 |
| Park, M | 1 |
| Park, HJ | 1 |
| Lee, JA | 1 |
| Cavino, K | 1 |
| Sung, B | 1 |
| Su, Q | 1 |
| Kim, J | 1 |
| Gromada, J | 1 |
| Sugahara, G | 1 |
| Yamasaki, C | 1 |
| Yanagi, A | 1 |
| Furukawa, S | 1 |
| Ogawa, Y | 1 |
| Fukuda, A | 1 |
| Enosawa, S | 1 |
| Umezawa, A | 1 |
| Ishida, Y | 1 |
| Tateno, C | 1 |
| Zabulica, M | 1 |
| Srinivasan, RC | 1 |
| Akcakaya, P | 1 |
| Allegri, G | 2 |
| Bestas, B | 1 |
| Firth, M | 1 |
| Hammarstedt, C | 1 |
| Jakobsson, T | 2 |
| Ellis, E | 1 |
| Jorns, C | 1 |
| Makris, G | 1 |
| Scherer, T | 2 |
| Rimann, N | 2 |
| van Zuydam, NR | 1 |
| Gramignoli, R | 1 |
| Forslöw, A | 1 |
| Engberg, S | 1 |
| Maresca, M | 1 |
| Rooyackers, O | 1 |
| Thöny, B | 2 |
| Häberle, J | 3 |
| Rosen, B | 1 |
| Strom, SC | 1 |
| Jiang, Y | 1 |
| Almannai, M | 1 |
| Sutton, VR | 1 |
| Sun, Q | 1 |
| Elsea, SH | 1 |
| Wilnai, Y | 1 |
| Blumenfeld, YJ | 1 |
| Cusmano, K | 1 |
| Hintz, SR | 1 |
| Alcorn, D | 1 |
| Benitz, WE | 1 |
| Berquist, WE | 1 |
| Bernstein, JA | 1 |
| Castillo, RO | 1 |
| Concepcion, W | 1 |
| Cowan, TM | 1 |
| Cox, KL | 2 |
| Lyell, DJ | 1 |
| Esquivel, CO | 1 |
| Homeyer, M | 1 |
| Hudgins, L | 1 |
| Hurwitz, M | 1 |
| Palma, JP | 1 |
| Schelley, S | 1 |
| Akula, VP | 1 |
| Summar, ML | 1 |
| Enns, GM | 2 |
| Wiwattanadittakul, N | 1 |
| Prust, M | 1 |
| Gaillard, WD | 1 |
| Massaro, A | 1 |
| Vezina, G | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Longitudinal Study of Urea Cycle Disorders[NCT00237315] | 1,009 participants (Anticipated) | Observational | 2006-02-28 | Recruiting | |||
| Open, Prospective, Historic-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Infusion of Liver Cell Suspension (HHLivC) in Children With Urea Cycle Disorders.[NCT01195753] | Phase 2 | 10 participants (Actual) | Interventional | 2010-12-31 | Terminated | ||
| A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria[NCT00345605] | Phase 2 | 12 participants (Actual) | Interventional | 2008-02-29 | Completed | ||
| A Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders[NCT00551200] | Phase 2 | 14 participants (Actual) | Interventional | 2007-10-31 | Completed | ||
| The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity[NCT01421888] | 4 participants (Actual) | Observational | 2011-08-08 | Terminated | |||
| Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy[NCT00472732] | 46 participants (Actual) | Observational | 2007-03-31 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromoles/L (Median) |
|---|---|
| High-dose Arginine Alone | 129 |
| Low-dose Arginine Plus Buphenyl | 53 |
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromole/l (Median) |
|---|---|
| High-dose Arginine Alone | 69 |
| Low-dose Arginine Plus Buphenyl | 53 |
The result (in seconds) for a prothrombin time performed on a normal individual will vary according to the type of analytical system employed. This is due to the variations between different batches of manufacturer's tissue factor used in the reagent to perform the test. The INR was devised to standardize the results. Each manufacturer assigns an ISI value (International Sensitivity Index) for any tissue factor they manufacture. The ISI value indicates how a particular batch of tissue factor compares to an international reference tissue factor. The ISI is usually between 1.0 and 2.0. The INR is the ratio of a patient's prothrombin time to a normal (control) sample, raised to the power of the ISI value for the analytical system being used. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | seconds (Mean) |
|---|---|
| Low-dose Arginine Plus Buphenyl | 14.2 |
| High Dose Arginine Alone | 13.8 |
(NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | micromoles/kg/hr (Mean) |
|---|---|
| High-dose Arginine Alone | 215 |
| Low-dose Arginine Plus Buphenyl | 97 |
Plasma aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were measured. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | IU/L (Mean) | |
|---|---|---|
| Plasma AST | ALT | |
| High Dose Arginine Alone | 52 | 57.86 |
| Low-dose Arginine Plus Buphenyl | 36.2 | 31.7 |
Plasma levels of coagulation factors I and IX were used as measures of hepatic synthetic function since the treatment duration was short. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | mg/dL (Mean) | |
|---|---|---|
| I | IX | |
| High Dose Arginine Alone | 229.77 | 98.36 |
| Low-dose Arginine Plus Buphenyl | 222.22 | 105.33 |
Prothrombin time (PT) and partial thromboplastin time (PTT) were measured PT measures factors I (fibrinogen), II (prothrombin), V, VII, and X, while PTT is a performance indicator of the efficacy of the common coagulation pathways. (NCT00345605)
Timeframe: Measured after each 1-week treatment period
| Intervention | seconds (Mean) | |
|---|---|---|
| PT | PTT | |
| High Dose Arginine Alone | 13.8 | 30.98 |
| Low-dose Arginine Plus Buphenyl | 14.25 | 30.91 |
(NCT00551200)
Timeframe: during the period on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 7 |
| HPN-100 | 5 |
(NCT00551200)
Timeframe: during the period subjects on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 1 |
| HPN-100 | 0 |
(NCT00551200)
Timeframe: End of Study
| Intervention | participants (Number) | |
|---|---|---|
| prefer Buphenyl | prefer HPN-100 | |
| Buphenyl to HPN-100 | 1 | 9 |
measured AUC0-24 (Area under the curve from time 0 (pre-dose) to 24 hours) for each metabolite in plasma. Data were collected at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post-first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone)
| Intervention | μg*h/mL (Mean) | ||
|---|---|---|---|
| AUC0-24 PBA (phenylbutyrate) in plasma | AUC0-24 PAA (phenylacetate) in plasma | AUC0-24 PAGN (phenylacetylglutamine) in plasma | |
| HPN-100 Steady State | 540 | 575 | 1098 |
| NaPBA Steady State | 740 | 596 | 1133 |
Data were collected at pre-first dose and at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone), and at steady state (1 week) after each dose escalation
| Intervention | μmol/L (Mean) | |
|---|---|---|
| in peak | in TNAUC (time-normalized area under the curve) | |
| HPN-100 Steady State | 56.3 | 26.5 |
| NaPBA Steady State | 79.1 | 38.4 |
Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage. (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | units on a scale (Mean) |
|---|---|
| OTCD Patients | 0.247 |
| Healthy Controls | 0.274 |
"Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocol we use selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point.~Furthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM)." (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | mM (Mean) | |||
|---|---|---|---|---|
| Glutamine in PCGM | Myoinositol in PCGM | Glutamine in PWM | Myoinositol in PWM | |
| Healthy Controls | 3.66 | 4.50 | 1.09 | 2.86 |
| OTCD Patients | 4.97 | 3.78 | 2.13 | 2.27 |
"Measure of blood oxygen level dependent (BOLD) signal of OTCD patients and healthy controls during an N-Back task comparing 2-back and 1-back conditions. This contrast was created for each participant using SPM and then entered into a group analysis in which we compare percent signal change between groups. Therefore, we never see BOLD signal change at the individual level, which is why we never see scores or numbers at the individual level and we cannot calculate a measure of dispersion for this data." (NCT00472732)
Timeframe: one time measurement at study baseline
| Intervention | percent signal change (Number) | ||
|---|---|---|---|
| Dorsolateral prefrontal cortex (BA 10) | Dorsolateral prefrontal cortex (BA 46) | Anterior cingulate cortex (BA 32) | |
| Healthy Controls | 0.04 | 0.15 | 0.28 |
| OTCD Patients | 0.21 | 0.22 | 0.515 |
21 reviews available for ammonium hydroxide and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Refractory Hyperammonemic encephalopathy in Fibrolamellar hepatocellular carcinoma, a case report and literature review.
Topics: Adult; Ammonia; Carcinoma, Hepatocellular; Humans; Lactulose; Liver Neoplasms; Male; Ornithine Carba | 2022 |
Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.
Topics: Ammonia; Central Nervous System; Child; Humans; Liver Transplantation; Ornithine Carbamoyltransferas | 2022 |
[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].
Topics: Ammonia; Child; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Retrospe | 2023 |
Comprehensive characterization of ureagenesis in the spf
Topics: Age Factors; Aging; Ammonia; Animals; Disease Models, Animal; Humans; Hyperammonemia; Liver; Male; M | 2019 |
Ammonia toxicity and its prevention in inherited defects of the urea cycle.
Topics: Adult; Ammonia; Animals; Arginine; Genetic Therapy; Humans; Hyperammonemia; Ornithine Carbamoyltrans | 2009 |
Problems in the management of urea cycle disorders.
Topics: Adult; Ammonia; Female; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Defi | 2004 |
[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diagnosis, Differential; Female; Humans; Infant; Infa | 1983 |
[Reye's syndrome].
Topics: Aflatoxins; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Humans; Hypoglycins; Leucine; Mi | 1982 |
Urea cycle disorders: diagnosis, pathophysiology, and therapy.
Topics: Adolescent; Algorithms; Alkalosis, Respiratory; Amino Acid Metabolism, Inborn Errors; Ammonia; Child | 1996 |
Sparse-fur (spf) mouse as a model of hyperammonemia: alterations in the neurotransmitter systems.
Topics: Ammonia; Animals; Chromosome Aberrations; Chromosome Disorders; Disease Models, Animal; Gene Express | 1997 |
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Follow-Up Studies; Humans; Infant; Infant, | 1998 |
Treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Antimetabolites; Child, Preschool; Drug Combinations; | 1999 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Human | 2000 |
Ornithine carbamoyltransferase deficiency.
Topics: Ammonia; Genetic Linkage; Genetic Therapy; Humans; Male; Ornithine Carbamoyltransferase Deficiency D | 2001 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
Metabolic mechanisms in Reye syndrome. End of a Mystery?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspirin; Brain Diseases; Carbamoyl-Phosphate Synthase | 1976 |
[A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].
Topics: Adult; Ammonia; Arginine; Citrulline; Consciousness Disorders; Female; Glycine; Humans; Ornithine Ca | 1992 |
Ornithine carbamoyl transferase deficiency: findings, models and problems.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; | 1992 |
Treating genetic diseases: lessons from three children.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Diseases, Inborn; Genetic Therapy; Hum | 1990 |
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synth | 1987 |
[Hyperammonemias of childhood. I. Enzymopathies of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Humans | 1987 |
3 trials available for ammonium hydroxide and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
Topics: Age of Onset; Amino Acids; Ammonia; Analysis of Variance; Arginine; Biomarkers; Blood Proteins; Body | 2006 |
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Topics: Adolescent; Adult; Age Factors; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamo | 2007 |
Long-term treatment of girls with ornithine transcarbamylase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Brain Diseases; | 1996 |
271 other studies available for ammonium hydroxide and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.
Topics: Ammonia; Animals; Disease Models, Animal; Glutaminase; Glutamine; Humans; Hyperammonemia; Liver; Mic | 2022 |
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.
Topics: Ammonia; Animals; Fibroblasts; Glutamate Dehydrogenase; Glutamine; Hyperammonemia; Mice; Ornithine; | 2022 |
Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Topics: Ammonia; Hepatic Encephalopathy; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency D | 2022 |
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Neutral; Ammonia; Animals; Disea | 2023 |
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.
Topics: Adult; Ammonia; Child; Humans; Hyperammonemia; Infant; Male; Ornithine Carbamoyltransferase; Ornithi | 2022 |
Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate.
Topics: Ammonia; Humans; Hyperammonemia; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Di | 2023 |
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hype | 2020 |
Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers.
Topics: Adolescent; Ammonia; Brain Diseases; Carcinoma, Hepatocellular; Humans; Liver Neoplasms; Male; Ornit | 2021 |
Glucagon Receptor Inhibition Reduces Hyperammonemia and Lethality in Male Mice with Urea Cycle Disorder.
Topics: Amino Acids; Ammonia; Animals; Antibodies, Monoclonal; Body Weight; Gene Expression Regulation; Glut | 2021 |
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
Topics: Ammonia; Animals; Child, Preschool; Disease Models, Animal; Female; Gene Expression Regulation; Hepa | 2021 |
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes.
Topics: Adult; Aged; Ammonia; Animals; Cells, Cultured; Child; Disease Models, Animal; Female; Gene Editing; | 2021 |
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Topics: Ammonia; Argininosuccinic Aciduria; Chromatography, Liquid; Female; Glutamine; Glycerol; Humans; Lim | 2017 |
Prenatal treatment of ornithine transcarbamylase deficiency.
Topics: Ammonia; Drug Combinations; Female; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutati | 2018 |
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 2018 |
Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.
Topics: Ammonia; Brain Diseases; Child; Delayed Diagnosis; Delirium; Emergency Service, Hospital; Humans; Hy | 2019 |
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Topics: Adolescent; Amino Acids; Ammonia; Arginine; Coma; Female; Humans; Hyperammonemia; Male; Middle Aged; | 2019 |
Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency.
Topics: Amino Acids; Ammonia; Child, Preschool; Endothelin-1; Female; Heterozygote; Humans; Infant; Infant, | 2013 |
Altered mental status in a teenager.
Topics: Adolescent; Ammonia; Child; Confusion; Diagnosis, Differential; Humans; Hyperammonemia; Male; Ornith | 2013 |
Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.
Topics: Ammonia; Female; Heterozygote; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficie | 2014 |
[Partial deficiency of ornithine transcarbamylase. A case report].
Topics: Aged; Ammonia; Female; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease | 2014 |
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Citrulline; Female; Glutamine; Humans; Infant; | 2015 |
Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.
Topics: Adult; Ammonia; Arginine; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Phenylb | 2016 |
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Topics: Adolescent; Adult; Ammonia; Child; Female; Humans; Hyperammonemia; Liver; Liver Failure, Acute; Long | 2016 |
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder.
Topics: Ammonia; Coma; Female; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Po | 2016 |
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Topics: Ammonia; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 2009 |
One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects.
Topics: Ammonia; Cell Transplantation; Cryopreservation; Hepatocytes; Humans; Infant; Infant, Newborn; Liver | 2009 |
[Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].
Topics: Adolescent; Adult; Age of Onset; Ammonia; Blood Chemical Analysis; Brain; Female; Humans; Intracrani | 2009 |
Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.
Topics: Age of Onset; Ammonia; Circle of Willis; Encephalocele; Exons; Gene Amplification; Humans; Immunosup | 2010 |
First example of hepatocyte transplantation to alleviate ornithine transcarbamylase deficiency, monitored by NMR-based metabonomics.
Topics: Ammonia; Hepatocytes; Humans; Infant; Infant, Newborn; Liver Transplantation; Magnetic Resonance Spe | 2009 |
Long-term outcome and intervention of urea cycle disorders in Japan.
Topics: Age of Onset; Ammonia; Female; Humans; Japan; Male; Ornithine Carbamoyltransferase Deficiency Diseas | 2012 |
Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient.
Topics: Adult; Airway Extubation; Amino Acid Substitution; Amino Acids; Ammonia; Bicycling; Early Diagnosis; | 2012 |
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.
Topics: Age of Onset; Ammonia; Arginine; Citrulline; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; O | 2012 |
An 18-year-old woman with a 15-cm liver mass and an ammonia level of 342.
Topics: Adolescent; Ammonia; Carcinoma, Hepatocellular; Confusion; Female; Humans; Liver Neoplasms; Lung Neo | 2012 |
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Topics: Adolescent; Alleles; Ammonia; Base Sequence; Child; Child, Preschool; Family; Female; Gene Order; He | 2013 |
[Fulminant coma: think hyperammonemia and urea cycle disorders].
Topics: Adolescent; Ammonia; Coma; Family; Fatal Outcome; Humans; Hyperammonemia; Male; Ornithine Carbamoylt | 2002 |
Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency.
Topics: Ammonia; Hemodiafiltration; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency | 2003 |
Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers.
Topics: Administration, Oral; Adult; Ammonia; Carrier State; Case-Control Studies; Female; Humans; Injection | 2003 |
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.
Topics: Ammonia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child Development; Child, Preschool; Com | 2004 |
Ornithine transcarbamylase deficiency in pregnancy.
Topics: Adult; Ammonia; Female; Heterozygote; Humans; Hyperammonemia; Infant, Newborn; Male; Ornithine Carba | 2005 |
Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice.
Topics: Amino Acids; Ammonia; Animals; Dipeptides; Food Deprivation; Genotype; Mice; Mice, Mutant Strains; M | 2006 |
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Topics: Adolescent; Adult; Age of Onset; Amino Acids; Ammonia; Child; Glutamine; Humans; Liver; Lysine; Male | 2006 |
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.
Topics: Ammonia; Animals; Behavior, Animal; Dependovirus; Female; Genetic Therapy; Genetic Vectors; Liver; M | 2006 |
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.
Topics: Ammonia; Child; Chromatography, High Pressure Liquid; Fatal Outcome; Humans; Male; Models, Chemical; | 2006 |
Protein is a problem...rare genetic deficits in protein metabolism can be fatal in children, but more common mutations may cause problems in adults...but it does help some people lose weight.
Topics: Adult; Ammonia; Child; Diet, Carbohydrate-Restricted; Dietary Proteins; Female; Humans; Liver; Ornit | 2007 |
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
Topics: Ammonia; Brain Diseases, Metabolic; Child, Preschool; DNA Mutational Analysis; Glutamine; Humans; Ma | 2007 |
Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.
Topics: Alanine; Ammonia; Animals; Arginine; Citrulline; Disease Models, Animal; Female; Glycine; Injections | 2007 |
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.
Topics: Amino Acids; Ammonia; Animals; Aquaporin 4; Astrocytes; Connexin 43; Diet, Reducing; Disease Models, | 2008 |
Individual susceptibility.
Topics: Ammonia; Brain Diseases; Child; Female; Humans; Insecticides; Ornithine Carbamoyltransferase Deficie | 1981 |
Sodium valproate and ornithine carbamyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant; Liver; Male; Mitochondria, Liver; Orn | 1981 |
Electroencephalographic findings in urea-cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Brain; Electroencephalogra | 1984 |
Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Carbamoyl-Phospha | 1980 |
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benz | 1984 |
Severe ornithine transcarbamylase deficiency. Two and a half years' survival with normal development.
Topics: Amino Acids; Ammonia; Benzoates; Benzoic Acid; Drug Therapy, Combination; Enteral Nutrition; Humans; | 1984 |
Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Electrophoresis, Polyacrylamide Gel; Gene Expression | 1984 |
Immunochemical study of ornithine transcarbamylase deficiency.
Topics: Ammonia; Child; Child, Preschool; Cross Reactions; Female; Humans; Immunodiffusion; Liver; Ornithine | 1984 |
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Dietary Proteins; Female; Genetic Carrier Scre | 1984 |
[Reye syndrome--a status review of current concepts of its pathogenesis].
Topics: Aflatoxins; Ammonia; Aspirin; Carbamoyl-Phosphate Synthase (Ammonia); Child; Fatty Acids, Nonesterif | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccini | 1984 |
A defect of the urea cycle--a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Male; Ornithine Carbamoyltra | 1984 |
Study of ammonia metabolism in a patient with ornithine transcarbamylase deficiency using an 15N tracer.
Topics: Amino Acids; Ammonia; Child; Female; Humans; Nitrogen Isotopes; Ornithine Carbamoyltransferase Defic | 1983 |
Activity of the glycine cleavage system in hyperammonemia treated with benzoate.
Topics: Ammonia; Animals; Benzoates; Benzoic Acid; Female; Folic Acid; Glycine; Humans; Liver; Male; Mice; M | 1983 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1984 |
A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Brain Diseases, Metabolic; Child, Preschool; F | 1984 |
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Coma; Dietary Proteins; Female; Heterozygote; | 1984 |
Ornithine carbamoyl transferase deficiency: a neuropathological study.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Brain; Cerebral Cortex; Female; Humans; Infa | 1984 |
Detection of urea cycle enzymopathies in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child, Presch | 1984 |
Urinary purines and pyrimidines in patients with hyperammonemia of various origins.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1980 |
The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal mucosa.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, | 1981 |
Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cross Reactions; Humans; Immunodiffusion; Infant; Inf | 1982 |
Carrier detection in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Aging; Ammonia; Child; Duodenum; Female; Genetic Carrier Screening; Humans; Ornit | 1982 |
Effect of long-term administration of sodium benzoate to a patient with partial ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Child; Female; Humans; Male; | 1983 |
Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Brain; Brain Diseases, Metaboli | 1983 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic A | 1983 |
The sparse fur mouse: an animal model for a human inborn error of metabolism of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Disease Models, Animal; | 1983 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate S | 1982 |
Successful treatment of severe OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Benzoic Acid; Citrulline; Humans | 1982 |
Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.
Topics: Ammonia; Animals; Cross Reactions; Humans; Kinetics; Liver; Male; Mice; Mutation; Ornithine Carbamoy | 1982 |
[Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Humans; Infant; Liver; Male; Ornithine Carba | 1982 |
Organic acid metabolism in a patient with ornithine transcarbamylase deficiency.
Topics: Ammonia; Ammonium Chloride; Child; Citrates; Citric Acid; Female; Glutamine; Humans; Ketoglutaric Ac | 1982 |
[Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Female; Humans; Ornithine Carbamoyl | 1982 |
Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cerebral Hemorrhage; Humans; Infant, Newborn; Infant, | 1982 |
Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Diet; Female; Gluta | 1982 |
Orotic acid in urine and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anion Exchange Resins; Humans; Ornithine Carbamoyltra | 1982 |
The study of organic acids metabolism in a patient with ornithine transcarbamylase (OTC) deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrates; Citric Acid; Female; Humans; Ketoglu | 1982 |
Ornithine transcarbamylase deficiency in a boy with normal development.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Chick Embryo; Dietary Proteins; Humans; Infa | 1980 |
[Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Cerebral Cortex; Humans; Infant; Infant, New | 1980 |
Recurrent Reye's syndrome without liver lipid deposition.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Diagnosis, Differential; Female; Hu | 1981 |
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argini | 1980 |
Ornithine transcarbamylase (OTC) in white blood cells.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Carbon Radioisotopes; Ca | 1980 |
Ultrastructural changes in the mitochondria in disorders in ornithine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Mitochondria, Liver; Ornithine; O | 1980 |
[Hyperammonemia in the newborn through ornithine transcarbamylase deficiency (author's transl)].
Topics: Ammonia; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Ornithine Carbamoyltransf | 1981 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genet | 1981 |
Partial ornithine transcarbamylase deficiency simulating Reye syndrome.
Topics: Ammonia; Diagnosis, Differential; Humans; Hydrogen-Ion Concentration; Infant; Liver; Male; Ornithine | 1981 |
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Dietary Proteins; Female; Genetic Carrier Scre | 1980 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
Topics: Alleles; Ammonia; Female; Gene Deletion; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransfera | 1995 |
Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Brain Damage, Chronic; Brain Disea | 1995 |
Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Female; Humans; Magnetic Resonance | 1995 |
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino-Acid N-Acetyltransferas | 1995 |
Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy.
Topics: Ammonia; Brain Edema; Female; Humans; Infant, Newborn; Liver Transplantation; Male; Metabolism, Inbo | 1995 |
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency.
Topics: Adult; Ammonia; Colitis, Ulcerative; Coma; Female; Heterozygote; Humans; Ornithine Carbamoyltransfer | 1995 |
Valproate as a cause of hyperammonemia in heterozygotes with ornithine-transcarbamylase deficiency.
Topics: Ammonia; Child; Epilepsy, Tonic-Clonic; Female; Heterozygote; Humans; Ornithine Carbamoyltransferase | 1995 |
Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Brain; Female; Mice; Mice, Muta | 1994 |
Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.
Topics: Adult; Ammonia; Coma; Fatal Outcome; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltra | 1994 |
Seven new mutations in the human ornithine transcarbamylase gene.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Base Sequence; Child; Child, Presc | 1994 |
Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Fetal Di | 1994 |
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Base Sequence; Chi | 1994 |
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Base Sequence; Child; Child, Preschool; DNA Mutationa | 1993 |
Increased densities of binding sites for the peripheral-type benzodiazepine receptor ligand [3H]PK 11195 in congenital ornithine transcarbamylase-deficient sparse fur mouse.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Binding Sites; Brain; Disease Models, Animal | 1993 |
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Child; Citrulline; Humans | 1994 |
[Brain monoamines and behavior in hyperammonemic sparse-fur mice].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Biogenic Monoamines; Brain Chemistry; Circad | 1994 |
Four new mutations in the ornithine transcarbamylase gene.
Topics: Ammonia; Base Sequence; DNA; Electrophoresis, Polyacrylamide Gel; Exons; Humans; Infant; Infant, New | 1993 |
Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency.
Topics: Adolescent; Ammonia; Coma; Female; Humans; Menarche; Ornithine Carbamoyltransferase Deficiency Disea | 1993 |
Effect of sodium benzoate on cerebral and hepatic energy metabolites in spf mice with congenital hyperammonemia.
Topics: Acetyl Coenzyme A; Adenosine Triphosphate; Ammonia; Animals; Benzoates; Benzoic Acid; Brain; Coenzym | 1993 |
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Brain Diseases; Child; Female; Glutamine; Huma | 1993 |
Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenases; Ammonia; Animals; Butyryl-CoA Dehydrogenase; Crosses, Gene | 1993 |
Free and esterified coenzyme A in the liver and muscles of chronically hyperammonemic mice treated with sodium benzoate.
Topics: Acetyl Coenzyme A; Ammonia; Animals; Benzoates; Benzoic Acid; Chronic Disease; Coenzyme A; Disease M | 1995 |
Ornithine transcarbamylase deficiency: case report and review.
Topics: Ammonia; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase De | 1995 |
Auxiliary partial orthotopic liver transplantation from a living related donor: a report of two cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Fatal Outcome; Fathers; Female; Fol | 1996 |
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Topics: Absorption; Ammonia; Arginine; Child, Preschool; Citrulline; Diagnosis, Differential; Dietary Protei | 1996 |
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Avoidance Learning; Crosses, Ge | 1995 |
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.
Topics: Ammonia; Animals; Brain Damage, Chronic; Disease Models, Animal; Glutamine; Hair; Metabolism, Inborn | 1995 |
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Binding Sites; Child, Preschool; Codon, Terminator; D | 1996 |
[Anesthetic management of a patient with ornithine transcarbamylase deficiency].
Topics: Ammonia; Anesthesia, General; Anesthesia, Local; Catheterization; Child; Consciousness Disorders; Em | 1996 |
Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Cognition Disorders | 1996 |
Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; DNA Mutational Analysis; DNA-Binding Proteins; Female | 1996 |
Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
Topics: Adolescent; Age of Onset; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Child; COS C | 1996 |
A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
Topics: Adult; Ammonia; Base Sequence; Exons; Fatal Outcome; Female; Frameshift Mutation; Humans; Ornithine | 1996 |
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Topics: Ammonia; Child; Child, Preschool; Exons; Fatal Outcome; Female; Gene Frequency; Genetic Carrier Scre | 1996 |
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Topics: Adolescent; Age of Onset; Ammonia; Coma; Exons; Female; Glutamic Acid; Humans; Male; Ornithine Carba | 1996 |
CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Child; Female; Humans; Magnetic Resonance Imag | 1996 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; | 1996 |
Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient.
Topics: Adult; Ammonia; Fatal Outcome; Female; Hemofiltration; Heterozygote; Humans; Liver Transplantation; | 1997 |
Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; DNA; Humans; Infant, Newborn; Male; Orni | 1996 |
Progressive decrease of cerebral cytochrome C oxidase activity in sparse-fur mice: role of acetyl-L-carnitine in restoring the ammonia-induced cerebral energy depletion.
Topics: Acetylcarnitine; Ammonia; Animals; Brain; Electron Transport Complex IV; Energy Metabolism; Female; | 1997 |
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Hetero | 1997 |
[Living related liver transplantation for patients with ornithine transcarbamylase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anesthesia, Intravenous; Anesthetics, Combined; Anest | 1997 |
Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance.
Topics: Adolescent; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Diagnosis, Dif | 1997 |
Developmental study of hepatic glutamine synthetase in a mouse model of congenital hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Body Weight; Disease Models, Animal; Female; | 1997 |
No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.
Topics: Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Liver; Mice; Mice, Inbred Strains; Mice, | 1997 |
Complementary expression of glutamine synthetase and carbamoylphosphate synthetase I in ornithine carbamoyltransferase-deficient mouse liver (spf-ash mouse).
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Female; Glutamate-Ammonia Ligase; Immunohi | 1997 |
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Topics: Age of Onset; Amino Acid Substitution; Ammonia; Base Sequence; Child; Child, Preschool; Family Healt | 1998 |
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
Topics: Age of Onset; Amino Acid Substitution; Ammonia; Animals; Aspartic Acid; COS Cells; DNA; DNA Mutation | 1998 |
Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Fatal Outcome; Female; Genotype; Heterozygote; Humans | 1998 |
A urea cycle defect presenting as acute cerebellar ataxia in a 3-year-old girl.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cerebellar Ataxia; Child, Preschool; Female; Humans; | 1998 |
Differential inhibition by hyperammonemia of the electron transport chain enzymes in synaptosomes and non-synaptic mitochondria in ornithine transcarbamylase-deficient spf-mice: restoration by acetyl-L-carnitine.
Topics: Acetylcarnitine; Ammonia; Animals; Cerebral Cortex; Electron Transport; Electron Transport Complex I | 1998 |
Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Anticonvulsants; Brain Diseases, Metaboli | 1998 |
Proceedings of a satellite meeting on advances in inherited urea cycle disorders. Vienna, 20-21 May 1997.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Cit | 1998 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child | 1998 |
Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency.
Topics: Adenoviruses, Human; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Clinical Trials, | 1998 |
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Humans; Hyperargininemia; Infan | 1998 |
Restoration of hepatic cytochrome c oxidase activity and expression with acetyl-L-carnitine treatment in spf mice with an ornithine transcarbamylase deficiency.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamoyl-Phosphate Synthas | 1998 |
Strategy used to overcome graft atrophy in auxiliary partial orthotopic liver transplantation from a living donor for ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Child, Preschool; Fathers; Female; Graft Rej | 1998 |
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Topics: Adolescent; Adult; Alanine; Amino Acids; Ammonia; Asparagine; Carbon-Nitrogen Ligases; Child; Child, | 1999 |
Ornithine transcarbamylase deficiency: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Brain Diseases, Metabolic; Fatal Outcome; Fema | 1998 |
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.
Topics: Age Distribution; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Child Development; Co | 1999 |
Reduction in the MK-801 binding sites of the NMDA sub-type of glutamate receptor in a mouse model of congenital hyperammonemia: prevention by acetyl-L-carnitine.
Topics: Acetylcarnitine; Adenosine Triphosphate; Aging; Amino Acid Metabolism, Inborn Errors; Ammonia; Anima | 1999 |
Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Coma; Female; Hemofiltration; Humans; Male; Or | 1999 |
Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.
Topics: Adult; Ammonia; Brain Diseases; Follow-Up Studies; Humans; Male; Mutation, Missense; Ornithine Carba | 1999 |
Electroencephalographic findings in ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain Diseases, Metabolic; Cerebral Cortex; Electroen | 1999 |
Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency.
Topics: Age of Onset; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Fatal Outcome; Female; Humans; Li | 1999 |
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Female; Gene Deletion; | 1999 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enz | 1999 |
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
Topics: Adolescent; Adult; Age of Onset; Ammonia; Child; Child, Preschool; Female; Humans; Infant; Infant, N | 2000 |
Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet.
Topics: Ammonia; Animals; Arginine; Avoidance Learning; Cognition Disorders; Diet; Maze Learning; Mice; Mice | 2000 |
Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.
Topics: Adult; Ammonia; Female; Gastrointestinal Hemorrhage; Humans; Liver; Ornithine Carbamoyltransferase D | 2001 |
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.
Topics: Adolescent; Ammonia; Benzoates; Benzoic Acid; Child; Child, Preschool; DNA Mutational Analysis; Drug | 2001 |
Coma in a young anorexic woman.
Topics: Adult; Ammonia; Anorexia Nervosa; Coma; Diagnosis, Differential; Female; Humans; Ornithine Carbamoyl | 2001 |
A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency.
Topics: Adenoviruses, Human; Adolescent; Adult; Aged; Amino Acids; Ammonia; Female; Gene Transfer Techniques | 2002 |
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Citrullinemia; Glutamine; Humans; Ornithine Car | 2001 |
Diagnosis of urea cycle disorders.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Hy | 1977 |
Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity.
Topics: Amino Acids; Ammonia; Arginase; Argininosuccinate Lyase; Child; Female; Humans; Infant; Liver; Male; | 1975 |
Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.
Topics: Age Factors; Ammonia; Brain Diseases; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschoo | 1976 |
Heritable urea cycle enzyme deficiency-liver disease in 16 patients.
Topics: Adolescent; Adult; Ammonia; Biopsy, Needle; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Pr | 1979 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant.
Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Ammonia; Anuria; Exchange Transfusion, Wh | 1979 |
Hereditary hyperammonaemic syndromes--a six year experience.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; Infan | 1979 |
Carrier detection in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Dietary Proteins; Female; Heterozygote; Humans; | 1978 |
[Anesthetic management of a patient with ornithine transcarbamylase deficiency associated with hyperammonemia (author's transl)].
Topics: Ammonia; Anesthesia, General; Child, Preschool; Female; Humans; Ornithine Carbamoyltransferase Defic | 1978 |
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrates; Di | 1978 |
[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Genes; Heterozygote; Humans; Infant, Newborn; Male; M | 1978 |
Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency.
Topics: Amino Acids, Essential; Ammonia; Child; Dietary Proteins; Female; Heterozygote; Humans; Keto Acids; | 1978 |
Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids.
Topics: Amino Acids; Amino Acids, Essential; Ammonia; Child Development; Dietary Proteins; Energy Intake; Gr | 1978 |
[Hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Infan | 1978 |
Study of enzyme defect in a case of ornithine transcarbamylase deficiency.
Topics: Ammonia; Child; Female; Humans; Kinetics; Liver; Ornithine Carbamoyltransferase; Ornithine Carbamoyl | 1978 |
The mechanism of postshunt liver failure.
Topics: Ammonia; Animals; Body Weight; DNA; Dogs; Enzyme Induction; Insulin; Liver; Liver Diseases; Metaboli | 1977 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1976 |
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency.
Topics: Acid-Base Imbalance; Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Urea Nitrogen; Dietary Pro | 1976 |
Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.
Topics: Alanine Transaminase; Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Enzymes; Fema | 1976 |
[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].
Topics: Ammonia; Creatinine; Cytoplasm; Female; Genealogy and Heraldry; Genetic Counseling; Heterozygote; Hu | 1975 |
Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.
Topics: Ammonia; Arginine; Carbamates; Catheterization; Drug Therapy, Combination; Glutamates; Humans; Infan | 1975 |
The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.
Topics: Amino Acids; Amino Acids, Essential; Ammonia; Arginine; Aspartic Acid; Deficiency Diseases; Exchange | 1975 |
Leukocyte urea cycle enzymes in hyperammonemia.
Topics: Ammonia; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Ac | 1975 |
Reye syndrome. A correlated electron-microscopic, viral, and biochemical observation.
Topics: Adolescent; Ammonia; Antibodies, Viral; Antibody Formation; Autopsy; Biopsy, Needle; Brain Diseases; | 1975 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |
Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia.
Topics: Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Hemorrhage; Humans; Infant, Newborn; Lung Diseases; | 1976 |
Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.
Topics: Adolescent; Adult; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; C | 1976 |
Editorial: Ammonia disposal in Reye's syndrome.
Topics: Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; Carbamoyl-Phosphate | 1976 |
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Base Sequence; Binding Sites; Female; Heterozygote; H | 1992 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hype | 1992 |
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Female; Gestational Age; | 1992 |
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Carnitine; Fatty Acid Desaturases; Female | 1992 |
[Hemofiltration in acute neonatal metabolic crisis].
Topics: Amino Acids, Branched-Chain; Ammonia; Emergencies; Female; Hemofiltration; Humans; Infant, Newborn; | 1992 |
Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Base Sequence; Child; Child, Pre | 1992 |
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Chromosome Deletion; Female; Humans | 1992 |
Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy.
Topics: Adult; Ammonia; Female; Heterozygote; Humans; Metabolic Diseases; Ornithine Carbamoyltransferase Def | 1992 |
Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice.
Topics: Adenosine Triphosphate; Ammonia; Animals; Brain; Coenzyme A; Energy Metabolism; Glucose; Glutamine; | 1992 |
Plasma glutamine concentration: a guide in the management of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Glutamine; Humans; Infant, Newborn; Male; Ornithine C | 1992 |
Prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anthropometry; Argininosuccinate Synthase; Argininosu | 1991 |
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Base Sequence; Blotting, Southern; Codon; Deoxyribonu | 1991 |
Congenital hyperammonemia: symptomatic carrier girl patient and her asymptomatic heterozygous mother for ornithine transcarbamylase (OTC) deficiency: specific enzyme diagnostic and kinetic investigations for the detection of heterozygous genostatus.
Topics: Ammonia; Female; Heterozygote; Humans; Infant; Kinetics; Ornithine Carbamoyltransferase Deficiency D | 1991 |
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies.
Topics: Ammonia; Arginine; Argininosuccinate Synthase; Child; Child, Preschool; Female; Humans; Liver Transp | 1991 |
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency.
Topics: Ammonia; Child, Preschool; Coma; Epilepsy; Female; Heterozygote; Humans; Ornithine Carbamoyltransfer | 1991 |
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.
Topics: Ammonia; Humans; Infant; Liver; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1991 |
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age Factors; Ammonia; Child; Child, Preschool; Female; Genetic Variation; Glutami | 1991 |
Urea cycle defect: a case with MR and CT findings resembling infarct.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cerebral Infarction; Child, Preschool; Female; Humans | 1991 |
Quantitative analysis of urinary pyroglutamic acid in patients with hyperammonemia.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate S | 1991 |
Ornithine transcarbamylase deficiency in male adolescence and adulthood.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Glutamine-H | 1990 |
Rett's syndrome and ornithine carbamoyltransferase deficiency.
Topics: Alanine; Ammonia; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Re | 1990 |
Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Chromosome Deletion; DNA Probes; Hu | 1990 |
[Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report].
Topics: Acute Disease; Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Humans; Ornithine | 1990 |
A case of ornithine transcarbamylase deficiency with acute and late onset simulating Reye's syndrome in an adult male.
Topics: Adolescent; Ammonia; Humans; Male; Ornithine Carbamoyltransferase Deficiency Disease; Reye Syndrome | 1990 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
[DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Base Sequence; DNA; Humans; Mutation; Ornith | 1990 |
Precarious balance of nitrogen metabolism in women with a urea-cycle defect.
Topics: Allopurinol; Ammonia; Coma; Female; Genetic Carrier Screening; Heterozygote; Humans; Nitrogen; Ornit | 1990 |
N-acetylglutamate content in liver and gut of normal and fasted mice, normal human livers, and livers of individuals with carbamyl phosphate synthetase or ornithine transcarbamylase deficiency.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Fasting; Female; Glutamates; Humans; Intes | 1990 |
Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Liver; Male; Mitochondria, Liver; | 1990 |
Serotonin- and catecholamine-related substances in the brain of ornithine transcarbamylase-deficient Sparse-fur mice in the hyperammonemic state: comparison of two procedures for obtaining brain extract, decapitation and microwave irradiation.
Topics: Ammonia; Animals; Brain; Brain Chemistry; Catecholamines; Mice; Microwaves; Ornithine Carbamoyltrans | 1989 |
The importance of glyoxylate and other glycine precursors in the hepatic and renal conjugation of benzoate in normal and hyperammonemic mice.
Topics: Ammonia; Animals; Benzoates; Female; Glycine; Glyoxylates; Hippurates; In Vitro Techniques; Kidney; | 1989 |
Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Genetic Carrier Screening | 1989 |
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Chromatograph | 1989 |
False positive alanine tolerance test results in heterozygote detection of urea cycle disorders.
Topics: Alanine; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1989 |
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity.
Topics: Adult; Alanine; Allopurinol; Ammonia; False Positive Reactions; Female; Genetic Carrier Screening; H | 1989 |
Computerized tomography in primary hyperammonemia.
Topics: Ammonia; Atrophy; Cerebral Cortex; Female; Humans; Infant; Intellectual Disability; Ornithine Carbam | 1989 |
DNA analysis of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; DNA; Female; Genetic Carrier Screen | 1988 |
[Genetic counseling in ornithine carbamoyltransferase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chromosome Mapping; Female; Genetic Carrier Screening | 1988 |
[A case of partial ornithine transcarbamylase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Electroencephalography; Female; Hum | 1989 |
A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Intellectual Disability; Movem | 1986 |
Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Cloning, Molecular; DNA; Mice; Mice, Mutant | 1986 |
Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.
Topics: Ammonia; Brain Stem; Child; Citrulline; Coma; Diagnosis, Differential; Encephalitis; Humans; Male; O | 1987 |
Ornithine transcarbamylase variant in a male patient.
Topics: Amino Acids; Ammonia; Citrulline; Dietary Proteins; Genetic Variation; Humans; Hydrogen-Ion Concentr | 1987 |
Lethal ornithine transcarbamylase deficiency in a female neonate.
Topics: Ammonia; Arginine; Citrulline; Coma; Female; Humans; Infant, Newborn; Ornithine Carbamoyltransferase | 1987 |
[Prenatal diagnosis of ornithine transcarbamylase deficiency using a DNA marker analysis].
Topics: Adult; Ammonia; Female; Genetic Markers; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; O | 1988 |
Late onset ornithine carbamoyl transferase deficiency in males.
Topics: Adolescent; Age Factors; Ammonia; Child; Child, Preschool; Genetic Linkage; Heterozygote; Humans; In | 1988 |
Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); C | 1987 |
Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency.
Topics: Ammonia; Carnitine; Child; Child, Preschool; Female; Humans; Infant, Newborn; Liver; Male; Ornithine | 1988 |
Family studies in ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; DNA; Female; Heterozygote; Humans; | 1988 |
Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biopsy; Duodenum; Female; Genetic Carrier Screening; | 1988 |
Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Aci | 1988 |
[Partial ornithine carbamyl transferase deficiency].
Topics: Acute Disease; Ammonia; Coma; Female; Humans; Infant, Newborn; Liver Diseases; Ornithine Carbamoyltr | 1988 |
[A case of ornithine transcarbamylase deficiency associated with a minor epileptic status].
Topics: Ammonia; Child; Electroencephalography; Female; Humans; Ornithine Carbamoyltransferase Deficiency Di | 1987 |
An inherited enzyme deficiency resulting in hyperammonaemia and coma in a burn patient.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Burns; Child, Preschool; Coma; Dietary Proteins; Huma | 1987 |
How early can ornithine carbamoyltransferase be measured in fetal liver?
Topics: Ammonia; Female; Gestational Age; Humans; Liver; Ornithine Carbamoyltransferase; Ornithine Carbamoyl | 1987 |
Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Brain; Humans; Infant, Newborn; Male; Ornith | 1986 |
Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Dietary Proteins; Humans; Liver; Male; Mental | 1986 |
Neuropathologic changes in ornithine carbamoyl transferase deficiency.
Topics: Ammonia; Arginine; Brain Diseases; Female; Humans; Male; Ornithine Carbamoyltransferase Deficiency D | 1986 |
A fatal variant of human ornithine carbamoyltransferase is stimulated by Mg2+.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Female; Genetic Variation; Humans; | 1986 |
[Familial primary ornithine carbamoyltransferase defect].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Carrier Screening; Humans; Male; Ornit | 1986 |
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events.
Topics: Alanine; Ammonia; Child; Female; Humans; Kinetics; Male; Ornithine Carbamoyltransferase Deficiency D | 1987 |
Ornithine transcarbamylase deficiency: adult onset of severe symptoms.
Topics: Adult; Ammonia; Brain Diseases, Metabolic; Female; Hemiplegia; Heterozygote; Humans; Mental Disorder | 1987 |
Disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca | 1985 |
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Coma; Female; Genetic Carrier Scree | 1986 |
Natural history of symptomatic partial ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Child, Preschool; Coma; Diagnosis, Differenti | 1986 |
Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia.
Topics: Ammonia; Humans; Infant, Newborn; Intestinal Obstruction; Male; Ornithine Carbamoyltransferase Defic | 1985 |
Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Child; Humans; Male; Ornithi | 1985 |
Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Apgar Score; Argininosuccinate Synthase; Argininosucc | 1985 |
Transient hyperammonemia during aging in ornithine transcarbamylase-deficient, sparse-fur mice.
Topics: Aging; Ammonia; Animals; Body Weight; Disease Models, Animal; Hair; Liver; Mice; Mice, Mutant Strain | 1985 |
Letter: Reye's syndrome.
Topics: Ammonia; Brain Diseases; Child; Female; Humans; Liver; Liver Function Tests; Male; Ornithine Carbamo | 1974 |
Proceedings: Case of hyperammonaemia due to ornithine transcarbamylase deficiency.
Topics: Ammonia; Brain Edema; Child, Preschool; Coma; Female; Humans; Ornithine Carbamoyltransferase Deficie | 1974 |
Hyperammonemia through deficiency of ornithine carbamyl transferase.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Dietary Proteins; Humans; Infant; Male; | 1974 |