urea has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 147 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
| 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) |
| "In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy." | 8.02 | Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect. ( Beddoes, P; Nerone, G; Tai, C, 2021) |
| "Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder." | 6.43 | [Hyperammonemia type II as an example of urea cycle disorder]. ( Duława, J; Hawrot-Kawecka, AM; Kawecki, GP, 2006) |
| "Unexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities." | 5.42 | Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report. ( Alameri, M; Alsaadi, T; Shakra, M, 2015) |
| "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) |
| "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) |
| "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) |
| "Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that urea cycle disorders can present at almost any age, frequently in the critical care setting." | 4.82 | Unmasked adult-onset urea cycle disorders in the critical care setting. ( Barr, F; Christman, BW; Dawling, S; Lee, B; Rhead, WJ; Singh, RH; Smith, W; Sniderman King, L; Summar, ML, 2005) |
| " 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) |
| "In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy." | 4.02 | Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect. ( Beddoes, P; Nerone, G; Tai, C, 2021) |
| "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) |
| "Groups of normal and heterozygote sparse-fur (spf) mutant mice were studied at various stages of gestation, to assess the effects of normal pregnancy on orotate excretion, hepatic mitochondrial urea cycle enzymes and any predisposition to the development of fatty liver." | 3.67 | The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. ( Letarte, J; Qureshi, IA; Qureshi, SR; Tuchweber, B; Yousef, I, 1986) |
| "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) |
| "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) |
| "Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder." | 2.43 | [Hyperammonemia type II as an example of urea cycle disorder]. ( Duława, J; Hawrot-Kawecka, AM; Kawecki, GP, 2006) |
| "However, male hemizygotes with ornithine transcarbamylase deficiency (OTCD) must be excluded from donor candidacy because of the potential risk of sudden-onset fatal hyperammonemia." | 2.43 | Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. ( Egawa, H; Kasahara, M; Morioka, D; Sakamoto, S; Shimada, H; Shirouzu, Y; Taira, K; Takada, Y; Tanaka, K; Uryuhara, K, 2005) |
| " 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) |
| "The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample." | 1.51 | Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. ( Batshaw, ML; Baumgartner, MR; Boy, N; Burgard, P; Burlina, AB; de Lonlay, P; Dionisi-Vici, C; Dobbelaere, D; Garbade, SF; Garcia-Cazorla, A; Hoffmann, GF; Kölker, S; McCandless, SE; Mew, NA; Posset, R; Seminara, J; Summar, M; Teles, EL; Vara, R, 2019) |
| "Unexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities." | 1.42 | Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report. ( Alameri, M; Alsaadi, T; Shakra, M, 2015) |
| "Ornithine transcarbamylase deficiency is a rare X-linked disorder in which female carriers are usually heterozygous for the ornithine transcarbamylase deficiency gene." | 1.38 | Peripartum management of two parturients with ornithine transcarbamylase deficiency. ( Allen, TK; Constantinescu, OC; Habib, AS; Ituk, U; Small, MJ, 2012) |
| "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) |
| "Respiratory alkalosis is an early sign of urea cycle disorder." | 1.35 | [A newborn infant with hyperventilation]. ( Bakken, M; Fugelseth, D; Lindemann, R; Myhre, MC; Rustad, CF; Woldseth, B, 2008) |
| "However, in patients with ASL deficiency, the development of neurological symptoms seems to be inevitable in spite of careful treatment and avoidance of hyperammonaemia." | 1.35 | Hereditary urea cycle diseases in Finland. ( Keskinen, P; Salo, M; Siitonen, A, 2008) |
| "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) |
| "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) |
| " Ambiguous medical prescriptions and inadequate cross-checking of drug dosage by physicians, nurses and pharmacists were the main causes of these incidents." | 1.31 | Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. ( Boyadjiev, SA; Brusilow, SW; Geraghty, MT; Praphanphoj, V; Waber, LJ, 2000) |
| "OTC deficiency is an X-linked disorder that causes hyperammonemia leading to brain damage, mental retardation and death." | 1.31 | The molecular basis of ornithine transcarbamylase deficiency. ( McCullough, BA; Tuchman, M; Yudkoff, M, 2000) |
| "Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis." | 1.31 | Localized proton MR spectroscopy in infants with urea cycle defect. ( Choi, CG; Yoo, HW, 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) |
| "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) |
| "Ureagenesis was less than 20% of that observed in controls before transplantation, and was normalized afterward." | 1.30 | Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. ( Batshaw, ML; Burton, BK; Daikhin, Y; Pabin, C; Robinson, MB; Wilson, JM; Ye, X; Yudkoff, M, 1999) |
| "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) |
| "The results show that liver tissue from OTC deficiency patients exhibited an increased ratio of uridine nucleotides to adenosine nucleotides, while in CPS-I deficiency patients, no such increase was noted." | 1.29 | Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( Lambert, M; Qureshi, IA; Rajalakshmi, S; Rao, PM; Sarma, DS; Vasudevan, S, 1995) |
| "Phenylacetylglutamine N synthesis was 2." | 1.29 | Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency. ( Brusilow, SW; Finkelstien, J, 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) |
| "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) |
| "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) |
| "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 | 39 (26.53) | 18.7374 |
| 1990's | 34 (23.13) | 18.2507 |
| 2000's | 51 (34.69) | 29.6817 |
| 2010's | 17 (11.56) | 24.3611 |
| 2020's | 6 (4.08) | 2.80 |
| Authors | Studies |
|---|---|
| Laemmle, A | 1 |
| Poms, M | 1 |
| Hsu, B | 1 |
| Borsuk, M | 1 |
| Rüfenacht, V | 1 |
| Robinson, J | 1 |
| Sadowski, MC | 1 |
| Nuoffer, JM | 2 |
| Häberle, J | 3 |
| Willenbring, H | 1 |
| Mao, X | 1 |
| Chen, H | 1 |
| Lin, AZ | 1 |
| Kim, S | 1 |
| Burczynski, ME | 1 |
| Na, E | 1 |
| Halasz, G | 1 |
| Sleeman, MW | 1 |
| Murphy, AJ | 1 |
| Okamoto, H | 1 |
| Cheng, X | 1 |
| Han, ST | 1 |
| Anderson, KJ | 1 |
| Bjornsson, HT | 1 |
| Longo, N | 1 |
| Valle, D | 1 |
| Belanger, AJ | 1 |
| Gefteas, E | 1 |
| Przybylska, M | 1 |
| Geller, S | 1 |
| Anarat-Cappillino, G | 1 |
| Kloss, A | 1 |
| Yew, NS | 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 |
| Beddoes, P | 1 |
| Nerone, G | 1 |
| Tai, C | 1 |
| Jiang, Y | 1 |
| Almannai, M | 1 |
| Sutton, VR | 1 |
| Sun, Q | 2 |
| 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 | 1 |
| 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 | 6 |
| Enns, GM | 2 |
| Prieve, MG | 1 |
| Harvie, P | 1 |
| Monahan, SD | 1 |
| Roy, D | 1 |
| Li, AG | 1 |
| Blevins, TL | 1 |
| Paschal, AE | 1 |
| Waldheim, M | 1 |
| Bell, EC | 1 |
| Galperin, A | 1 |
| Ella-Menye, JR | 1 |
| Houston, ME | 1 |
| Wang, X | 1 |
| Yuan, Y | 1 |
| Didelija, IC | 1 |
| Mohammad, MA | 1 |
| Marini, JC | 5 |
| Allegri, G | 1 |
| Deplazes, S | 1 |
| Rimann, N | 1 |
| Causton, B | 1 |
| Scherer, T | 1 |
| Leff, JW | 1 |
| Diez-Fernandez, C | 1 |
| Klimovskaia, A | 1 |
| Fingerhut, R | 1 |
| Krijt, J | 1 |
| Kožich, V | 1 |
| Grisch-Chan, HM | 1 |
| Thöny, B | 1 |
| Posset, R | 1 |
| Garbade, SF | 1 |
| Boy, N | 1 |
| Burlina, AB | 2 |
| Dionisi-Vici, C | 2 |
| Dobbelaere, D | 2 |
| Garcia-Cazorla, A | 1 |
| de Lonlay, P | 1 |
| Teles, EL | 1 |
| Vara, R | 1 |
| Mew, NA | 1 |
| Batshaw, ML | 12 |
| Baumgartner, MR | 1 |
| McCandless, SE | 1 |
| Seminara, J | 1 |
| Summar, M | 4 |
| Hoffmann, GF | 5 |
| Kölker, S | 2 |
| Burgard, P | 2 |
| Nagasaka, H | 4 |
| Yorifuji, T | 5 |
| Egawa, H | 2 |
| Inui, A | 2 |
| Fujisawa, T | 1 |
| Komatsu, H | 2 |
| Tsukahara, H | 2 |
| Uemoto, S | 1 |
| Inomata, Y | 1 |
| Samuel, N | 1 |
| Politansky, AK | 1 |
| Hoffman, R | 1 |
| Itzkovich, S | 1 |
| Mandel, H | 1 |
| Helman, G | 1 |
| Pacheco-Colón, I | 1 |
| Gropman, AL | 2 |
| Alameri, M | 1 |
| Shakra, M | 1 |
| Alsaadi, T | 1 |
| Opladen, T | 1 |
| Lindner, M | 2 |
| Das, AM | 2 |
| Marquardt, T | 1 |
| Khan, A | 1 |
| Emre, SH | 1 |
| Burton, BK | 3 |
| Barshop, BA | 2 |
| Böhm, T | 1 |
| Meyburg, J | 2 |
| Zangerl, K | 1 |
| Mayorandan, S | 1 |
| Dürr, UH | 1 |
| Rosenkranz, B | 1 |
| Rennecke, J | 1 |
| Derbinski, J | 1 |
| Yudkoff, M | 8 |
| Açıkalın, A | 1 |
| Dişel, NR | 1 |
| Tuchman, M | 5 |
| Lee, B | 14 |
| Lichter-Konecki, U | 1 |
| Cederbaum, SD | 2 |
| Kerr, DS | 1 |
| Diaz, GA | 1 |
| Seashore, MR | 1 |
| Lee, HS | 1 |
| McCarter, RJ | 1 |
| Krischer, JP | 1 |
| Lindemann, R | 1 |
| Myhre, MC | 1 |
| Bakken, M | 1 |
| Fugelseth, D | 1 |
| Rustad, CF | 1 |
| Woldseth, B | 1 |
| Reigstad, H | 1 |
| Keskinen, P | 1 |
| Siitonen, A | 1 |
| Salo, M | 1 |
| Brusilow, S | 4 |
| Mitchell, S | 1 |
| Ellingson, C | 1 |
| Coyne, T | 1 |
| Hall, L | 1 |
| Neill, M | 1 |
| Christian, N | 1 |
| Higham, C | 1 |
| Dobrowolski, SF | 1 |
| Miida, T | 1 |
| Murayama, K | 3 |
| Tsuruoka, T | 1 |
| Takatani, T | 2 |
| Kanazawa, M | 2 |
| Kobayashi, K | 5 |
| Okano, Y | 1 |
| Takayanagi, M | 4 |
| Hoerster, F | 1 |
| Kriegbaum, H | 1 |
| Engelmann, G | 2 |
| Schmidt, J | 2 |
| Ott, M | 1 |
| Pettenazzo, A | 1 |
| Luecke, T | 1 |
| Bertram, H | 1 |
| Burlina, A | 1 |
| Walker, V | 1 |
| Thurlow, VR | 1 |
| Asafu-Adjaye, M | 1 |
| Agalou, S | 1 |
| Rahman, Y | 1 |
| Legido-Quigley, C | 1 |
| Cloarec, O | 1 |
| Parker, DA | 1 |
| Murphy, GM | 1 |
| Holmes, E | 1 |
| Lindon, JC | 1 |
| Nicholson, JK | 1 |
| Mitry, RR | 1 |
| Vilca-Melendez, H | 1 |
| Rela, M | 1 |
| Dhawan, A | 1 |
| Heaton, N | 1 |
| Lanpher, BC | 1 |
| Scaglia, F | 3 |
| O'Brien, WE | 2 |
| Garlick, PJ | 3 |
| Jahoor, F | 1 |
| Teufel, U | 1 |
| Weitz, J | 1 |
| Flechtenmacher, C | 1 |
| Prietsch, V | 1 |
| Ituk, U | 1 |
| Constantinescu, OC | 1 |
| Allen, TK | 1 |
| Small, MJ | 1 |
| Habib, AS | 1 |
| Kido, J | 1 |
| Nakamura, K | 1 |
| Mitsubuchi, H | 1 |
| Ohura, T | 2 |
| Matsuo, M | 1 |
| Yoshino, M | 2 |
| Shigematsu, Y | 1 |
| Kasahara, M | 2 |
| Horikawa, R | 1 |
| Endo, F | 2 |
| Wasant, P | 1 |
| Srisomsap, C | 1 |
| Liammongkolkul, S | 1 |
| Svasti, J | 1 |
| Augris, C | 1 |
| Jouvet, P | 3 |
| Benabdelmalek, F | 1 |
| Vauquelin, P | 1 |
| Caramella, JP | 1 |
| Horslen, SP | 1 |
| McCowan, TC | 1 |
| Goertzen, TC | 1 |
| Warkentin, PI | 1 |
| Cai, HB | 1 |
| Strom, SC | 1 |
| Fox, IJ | 1 |
| Marini, J | 1 |
| Rosenberger, J | 1 |
| Henry, J | 1 |
| Garlick, P | 1 |
| Reeds, P | 1 |
| Pérez Valdivieso, JR | 1 |
| Mbongo Bubakala, CL | 1 |
| Calderón Pelayo, R | 1 |
| López Olaondo, LA | 1 |
| Bes Rastrollo, M | 1 |
| Gyato, K | 1 |
| Wray, J | 1 |
| Huang, ZJ | 1 |
| Carter, S | 2 |
| Wilcken, B | 1 |
| Koch, HG | 1 |
| Sogo, T | 1 |
| Kikuta, H | 1 |
| McBride, KL | 1 |
| Miller, G | 1 |
| Karpen, S | 1 |
| Goss, J | 1 |
| Barr, F | 1 |
| Dawling, S | 1 |
| Smith, W | 5 |
| Singh, RH | 5 |
| Rhead, WJ | 6 |
| Sniderman King, L | 5 |
| Christman, BW | 1 |
| Kishnani, PS | 1 |
| Smith, M | 1 |
| Morioka, D | 1 |
| Takada, Y | 1 |
| Shirouzu, Y | 1 |
| Taira, K | 1 |
| Sakamoto, S | 1 |
| Uryuhara, K | 1 |
| Shimada, H | 1 |
| Tanaka, K | 1 |
| Kubota, M | 1 |
| Kurokawa, K | 1 |
| Murakami, T | 1 |
| Ogawa, A | 1 |
| Ogawa, E | 1 |
| Yamamoto, S | 1 |
| Adachi, M | 1 |
| van Kuilenburg, AB | 1 |
| van Maldegem, BT | 1 |
| Abeling, NG | 1 |
| Wijburg, FA | 1 |
| Duran, M | 1 |
| Sunder, RA | 1 |
| Agarwal, A | 1 |
| Mavri-Damelin, D | 1 |
| Eaton, S | 1 |
| Damelin, LH | 1 |
| Rees, M | 1 |
| Hodgson, HJ | 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 | ||
| Hepatocyte Transplantation for Liver Based Metabolic Disorders[NCT01345578] | Phase 1 | 5 participants (Actual) | Interventional | 2011-03-31 | Terminated (stopped due to seeking additional funding) | ||
| 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 | ||
| 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 | |||
| 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 | |||
| [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 |
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 |
(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 |
26 reviews available for urea and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
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 |
Cognitive outcome in urea cycle disorders.
Topics: Age of Onset; Child; Cognition Disorders; Female; Humans; Hyperammonemia; Intellectual Disability; M | 2004 |
Problems in the management of urea cycle disorders.
Topics: Adult; Ammonia; Female; Humans; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Defi | 2004 |
Unmasked adult-onset urea cycle disorders in the critical care setting.
Topics: Adult; Age of Onset; Brain Diseases, Metabolic, Inborn; Carbamoyl-Phosphate Synthase I Deficiency Di | 2005 |
Considerations in the difficult-to-manage urea cycle disorder patient.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficie | 2005 |
Nutritional management of urea cycle disorders.
Topics: Acute Disease; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chr | 2005 |
Genetic counseling issues in urea cycle disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase I Deficiency Disease; Chro | 2005 |
Urea cycle disorders: clinical presentation outside the newborn period.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Child, Preschool; Fem | 2005 |
Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University.
Topics: Adolescent; Adult; Age Factors; Cause of Death; Child; Child, Preschool; Cohort Studies; Female; Gra | 2005 |
[Hyperammonemia type II as an example of urea cycle disorder].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Coma; Female; Humans; Hyperammonemi | 2006 |
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Syntha | 2008 |
Urea cycle enzymopathies.
Topics: Acetyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Arg | 1982 |
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Topics: Argininosuccinic Acid; Humans; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency | 1995 |
Ornithine transcarbamylase deficiency: a model for gene therapy.
Topics: Animals; Genetic Therapy; Humans; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithi | 1994 |
[Molecular basis of urea cycle disorders].
Topics: Alleles; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 1993 |
[Urea cycle disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamo | 1995 |
Urea cycle disorders: diagnosis, pathophysiology, and therapy.
Topics: Adolescent; Algorithms; Alkalosis, Respiratory; Amino Acid Metabolism, Inborn Errors; Ammonia; Child | 1996 |
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 |
[Prenatal diagnosis of enzymopathies of the urea cycle].
Topics: Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Femal | 1988 |
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 |
Inborn defects of the mitochondrial portion of the urea cycle.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Animals; Biological Transport, Active; Carbamoyl | 1986 |
3 trials available for urea and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.
Topics: Adolescent; Adult; Aged; Amino Acids; Amino Acids, Branched-Chain; Child; Female; Glutamine; Humans; | 2011 |
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 |
118 other studies available for urea and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Topics: Adult; Aquaporins; Hepatocytes; Humans; Induced Pluripotent Stem Cells; Liver Diseases; Ornithine Ca | 2022 |
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 |
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Topics: Adolescent; Adult; Age of Onset; Alleles; Humans; Hyperammonemia; Male; Ornithine Carbamoyltransfera | 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 |
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hype | 2020 |
Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect.
Topics: Adult; Child; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Status Epil | 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 |
Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency.
Topics: Animals; Disease Models, Animal; Genetic Therapy; Male; Metabolic Networks and Pathways; Mice; Mice, | 2018 |
Ex Vivo Enteroids Recapitulate In Vivo Citrulline Production in Mice.
Topics: Animals; Arginine; Citrulline; Disease Models, Animal; Intestines; Liver; Male; Mice; Mice, Inbred I | 2018 |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Topics: Cohort Studies; Data Analysis; Delayed Diagnosis; Europe; Female; Humans; Infant, Newborn; Male; Neo | 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 |
Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.
Topics: Amino Acids, Essential; Blood Coagulation Tests; Child, Preschool; Diagnosis, Differential; Diet, Pr | 2013 |
The urea cycle disorders.
Topics: Brain; Diagnosis, Differential; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Di | 2014 |
Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.
Topics: Adolescent; Clostridioides difficile; Coma; Enterocolitis, Pseudomembranous; Fatal Outcome; Humans; | 2015 |
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Topics: Administration, Oral; Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Humans; H | 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 |
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child | 2008 |
[A newborn infant with hyperventilation].
Topics: Alkalosis, Respiratory; Diagnosis, Differential; Fatal Outcome; Humans; Hyperammonemia; Infant, Newb | 2008 |
[Metabolic inborn error with acute debut in newborns].
Topics: Diagnosis, Differential; Emergencies; Humans; Hyperammonemia; Infant, Newborn; Metabolism, Inborn Er | 2008 |
Hereditary urea cycle diseases in Finland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph | 2008 |
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Topics: Acute Disease; Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschoo | 2008 |
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 |
Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.
Topics: Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Child, Preschool; Citrulline; Female; | 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 |
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.
Topics: Adult; Fatal Outcome; Humans; Hyperammonemia; Male; Ornithine Carbamoyltransferase Deficiency Diseas | 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 |
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure.
Topics: Alanine Transaminase; Aspartate Aminotransferases; Child, Preschool; Female; Hepatic Encephalopathy; | 2011 |
Peripartum management of two parturients with ornithine transcarbamylase deficiency.
Topics: Adult; Anesthesia, Obstetrical; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; P | 2012 |
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 |
Urea cycle disorders in Thai infants: a report of 5 cases.
Topics: Argininosuccinate Synthase; Brain Diseases, Metabolic; Child Development; Fatal Outcome; Female; Hum | 2002 |
[Fulminant coma: think hyperammonemia and urea cycle disorders].
Topics: Adolescent; Ammonia; Coma; Family; Fatal Outcome; Humans; Hyperammonemia; Male; Ornithine Carbamoylt | 2002 |
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder.
Topics: Adult; Crigler-Najjar Syndrome; Female; Genetic Carrier Screening; Hepatocytes; Humans; Hyperammonem | 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 |
[Anesthetic considerations in a woman with congenital hyperammonemia].
Topics: Adult; Anesthesia, General; Epilepsy; Fasting; Female; Humans; Hyperammonemia; Intellectual Disabili | 2002 |
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Cognition; Female; Heterozygo | 2004 |
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Citrullinemia; | 2004 |
Genetic approach to prenatal diagnosis in urea cycle defects.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci | 2004 |
Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.
Topics: Child, Preschool; Female; Humans; Infant; Metabolic Diseases; Nitric Oxide; Ornithine Carbamoyltrans | 2004 |
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 |
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 |
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice.
Topics: Amino Acids; Animals; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase; Or | 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 |
Anaesthetic management of a patient with ornithine transcarbamylase deficiency.
Topics: Administration, Topical; Analgesics; Anesthesiology; Anesthetics, General; Fentanyl; Humans; Lens Di | 2006 |
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2.
Topics: Arginase; Base Sequence; Carcinoma, Hepatocellular; Cell Line, Tumor; DNA Primers; Gene Expression; | 2007 |
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 |
In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
Topics: Alleles; Amino Acid Substitution; Animals; Cell Line; Genetic Diseases, X-Linked; Humans; Hyperammon | 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 |
Presentation of an acquired urea cycle disorder post liver transplantation.
Topics: Fatal Outcome; Female; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver; Liver Cirrhosis; Liver | 2007 |
Fatal initial adult-onset presentation of urea cycle defect.
Topics: Adult; Brain Edema; DNA; Fatal Outcome; Female; Heterozygote; Humans; Hyperammonemia; Infant, Newbor | 2007 |
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 |
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 |
[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 |
Detection of urea cycle enzymopathies in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child, Presch | 1984 |
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 |
Activity of orotate metabolizing enzyme complex and various urea-cycle enzymes in mutant mice with ornithine transcarbamylase deficiency.
Topics: Animals; Mice; Mice, Mutant Strains; Multienzyme Complexes; Ornithine Carbamoyltransferase Deficienc | 1982 |
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 |
[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 |
[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 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genet | 1981 |
Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme.
Topics: Female; Humans; Infant; Isoelectric Focusing; Kinetics; Liver; Molecular Weight; Ornithine Carbamoyl | 1980 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Topics: Adenine Nucleotides; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Liver; Metabolism, Inborn Error | 1995 |
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 |
Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency.
Topics: Adult; Arginine; Glutamine; Homeostasis; Humans; Male; Nitrogen; Ornithine Carbamoyltransferase; Orn | 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 |
Ornithine transcarbamylase deficiency: case report and review.
Topics: Ammonia; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase De | 1995 |
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Topics: Absorption; Ammonia; Arginine; Child, Preschool; Citrulline; Diagnosis, Differential; Dietary Protei | 1996 |
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Child; 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 |
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 |
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 |
In vivo measurement of ureagenesis with stable isotopes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Breath Tests; Carbon Dioxide; Carbon | 1998 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child | 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 |
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.
Topics: Age Distribution; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Child Development; Co | 1999 |
Recurrent brain edema in ornithine-transcarbamylase deficiency.
Topics: Age of Onset; Brain Edema; Female; Humans; Metabolism, Inborn Errors; Middle Aged; Ornithine Carbamo | 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 |
Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.
Topics: Animals; Child; Disease Models, Animal; Female; Gene Transfer Techniques; Genetic Therapy; Humans; L | 1999 |
Liver transplantation in urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Chil | 1999 |
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.
Topics: Child; Child, Preschool; Drug Overdose; Fatal Outcome; Female; Humans; Injections, Intravenous; Male | 2000 |
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 |
RC--a case of ornithine transcarbamylase (OTC) deficiency. The most commonly genetically acquired urea cycle defect.
Topics: Blood Chemical Analysis; Child, Preschool; Disease Progression; Fatal Outcome; Female; Humans; Liver | 2000 |
Long-term management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; | 2001 |
The molecular basis of ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Genetic Linkage; Humans; Hyperammonemia; Infant; | 2000 |
Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.
Topics: Codon; Exons; Female; Humans; Liver; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransf | 2001 |
Localized proton MR spectroscopy in infants with urea cycle defect.
Topics: Amino Acid Metabolism, Inborn Errors; Citrullinemia; Female; Humans; Infant; Infant, Newborn; Magnet | 2001 |
Diagnosis of urea cycle disorders.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Hy | 1977 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Carbamoyl-Phosphate Synthase (Ammo | 1979 |
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 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Use of keto acids in inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzi | 1979 |
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 |
Leukocyte urea cycle enzymes in hyperammonemia.
Topics: Ammonia; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Ac | 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 |
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 |
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Topics: Alanine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Aspartic Acid; Carbamates; Child; Ch | 1976 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; M | 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 |
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 |
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 |
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency.
Topics: Child, Preschool; Humans; Infant; Infant, Newborn; Japan; Male; Mortality; Ornithine Carbamoyltransf | 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 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome.
Topics: Adolescent; Carbohydrate Metabolism; Child; Child, Preschool; Female; Genetic Linkage; Humans; Metab | 1990 |
Attempts to investigate the molecular basis of urea cycle disorders.
Topics: Argininosuccinate Synthase; Citrulline; Humans; Ligases; Molecular Biology; Ornithine Carbamoyltrans | 1987 |
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice.
Topics: Animals; Creatinine; Fatty Liver; Female; Genotype; Liver; Mice; Mice, Mutant Strains; Mitochondria, | 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 |
Disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca | 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 |