ammonium hydroxide and Amino Acid Metabolism Disorders, Inborn studies

Research Excerpts

Excerpt	Relevance	Reference
"In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems."	7.76	N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010)
"Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia."	7.70	Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( Eto, Y; Kanazawa, N; Kira, J; Ohashi, T; Saito, T; Tsujino, S; Yamada, T, 2000)
"Mitochondria of fibroblasts cultured from the skin obtained at biopsy from three patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome, one of the autosomal recessive, heritable urea cycle disorders, were studied with appropriate controls ultrastructurally."	7.69	Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. ( Dewar, RA; Gatfield, DP; Gordon, BA; Haust, MD, 1996)
"Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH)-syndrome is a rare autosomal recessive disorder of the urea cycle, probably caused by a defect in ornithine transport across the hepatic inner mitochondrial membrane."	7.69	Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( Haust, MD, 1995)
"A 16-year-old boy with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome was reported."	7.68	[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. ( Goto, I; Kobayashi, T; Shigeto, H; Yamada, T, 1992)
"The HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria) is characterized by a very rare genetic defect of ornithine transport in mitochondrial membrane."	7.68	Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). ( Eto, Y; Maekawa, K; Shimizu, H, 1990)
"The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)."	7.68	Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990)
"Valproic acid induced coma is presented in an adult patient without a history of metabolic disease."	7.68	Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. ( Colombo, JP; Straver, JS; van der Vijver, JC; van Woerkom, TC; Verbiest, HB, 1992)
"A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described."	7.67	Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA, 1986)
"The primary defect in patients presenting with a history of protein intolerance, mental retardation, and epilepsy of variable degree, with the unique triad of hyperornithinemia, hyperammonemia, and homocitrullinuria (the HHH syndrome) has been postulated to be a defect in translocation of ornithine into the mitochondria."	7.67	The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. ( Gatfield, DP; Gordon, BA; Haust, MD, 1987)
"Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively."	7.67	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987)
"We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (McKusick 22270) cells in which there is an ornithine transport abnormality at the plasma membrane."	7.67	Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. ( Botschner, J; Scriver, CR; Simell, O; Smith, DW, 1989)
"Impairment of urea cycle function in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is presumably caused, in some patients, by deficient transport of ornithine from cytoplasm into mitochondria."	7.67	Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( Clow, CL; Mackenzie, S; Scriver, CR; Simell, O, 1985)
"The relative effectiveness of exchange transfusion, peritoneal dialysis, arginine, and sodium benzoate was evaluated during 44 episodes of hyperammonemic coma in 31 patients with congenital urea cycle enzymopathies."	7.66	Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. ( Batshaw, ML; Brusilow, SW, 1980)
"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)
"In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems."	3.76	N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. ( Donati, MA; Filippi, L; Fiorini, P; Gozzini, E; la Marca, G; Malvagia, S, 2010)
"Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia."	3.70	Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( Eto, Y; Kanazawa, N; Kira, J; Ohashi, T; Saito, T; Tsujino, S; Yamada, T, 2000)
"Mitochondria of fibroblasts cultured from the skin obtained at biopsy from three patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome, one of the autosomal recessive, heritable urea cycle disorders, were studied with appropriate controls ultrastructurally."	3.69	Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. ( Dewar, RA; Gatfield, DP; Gordon, BA; Haust, MD, 1996)
"Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH)-syndrome is a rare autosomal recessive disorder of the urea cycle, probably caused by a defect in ornithine transport across the hepatic inner mitochondrial membrane."	3.69	Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( Haust, MD, 1995)
"Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells."	3.69	Prenatal exclusion of the HHH syndrome. ( Gray, RG; Green, A; Hall, S; McKeown, C, 1995)
" L-Carnitine was used at doses of 2, 4, 8, or 16 mmol/kg body weight (BW), and levels of ammonia, glutamine, glutamate, and some intermediates of energy metabolism were measured in brain and liver of spf/Y mice."	3.68	Effect of L-carnitine on cerebral and hepatic energy metabolites in congenitally hyperammonemic sparse-fur mice and its role during benzoate therapy. ( Butterworth, RF; Qureshi, IA; Ratnakumari, L, 1993)
"The HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria) is characterized by a very rare genetic defect of ornithine transport in mitochondrial membrane."	3.68	Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). ( Eto, Y; Maekawa, K; Shimizu, H, 1990)
"A 16-year-old boy with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome was reported."	3.68	[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. ( Goto, I; Kobayashi, T; Shigeto, H; Yamada, T, 1992)
"Valproic acid induced coma is presented in an adult patient without a history of metabolic disease."	3.68	Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. ( Colombo, JP; Straver, JS; van der Vijver, JC; van Woerkom, TC; Verbiest, HB, 1992)
"The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)."	3.68	Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990)
"Gamma-glutamylornithine has been identified in urine from patients with the HHH syndrome (hyperornithinemia, hyperammonemia and homocitrullinuria) and with gyrate atrophy associated with hyperornithinemia."	3.67	Gamma-glutamylornithine excretion in patients with hyperornithinemia. ( Blankenship, PR; Coryell, ME; Hommes, FA; Roesel, RA, 1984)
"The primary defect in patients presenting with a history of protein intolerance, mental retardation, and epilepsy of variable degree, with the unique triad of hyperornithinemia, hyperammonemia, and homocitrullinuria (the HHH syndrome) has been postulated to be a defect in translocation of ornithine into the mitochondria."	3.67	The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. ( Gatfield, DP; Gordon, BA; Haust, MD, 1987)
"Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively."	3.67	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987)
"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)
"We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (McKusick 22270) cells in which there is an ornithine transport abnormality at the plasma membrane."	3.67	Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. ( Botschner, J; Scriver, CR; Simell, O; Smith, DW, 1989)
"Impairment of urea cycle function in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is presumably caused, in some patients, by deficient transport of ornithine from cytoplasm into mitochondria."	3.67	Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( Clow, CL; Mackenzie, S; Scriver, CR; Simell, O, 1985)
"A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described."	3.67	Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA, 1986)
"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)
"A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described."	3.66	Methylmalonic acidemia. ( Akaboshi, I; Hattori, S; Matsuda, I; Nagata, N; Oka, Y; Shinozuka, S; Terashima, T; Yamamoto, J, 1978)
"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)
"The relative effectiveness of exchange transfusion, peritoneal dialysis, arginine, and sodium benzoate was evaluated during 44 episodes of hyperammonemic coma in 31 patients with congenital urea cycle enzymopathies."	3.66	Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. ( Batshaw, ML; Brusilow, SW, 1980)
"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)
"Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase."	2.82	Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. ( Baruteau, J; Cano, A; Chakrapani, A; Coker, M; Couce, ML; Del Toro, M; Delgado, MB; Donati, MA; Garcia-Cazorla, A; Gil-Ortega, D; Gomez-de Quero, P; Guffon, N; Hofstede, FC; Kalkan-Ucar, S; Lama-More, R; Le Mouhaer, J; Martinez-Pardo Casanova, M; Molina, A; Papadia, F; Pichard, S; Plisson, C; Rosello, P; Valayannopoulos, V, 2016)
"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)
"A characteristic feature of chronic renal failure (CRF) is decreased urinary NH4+ excretion and an alteration in systemic acid-base balance."	2.38	Renal ammonia and bicarbonate production in chronic renal failure. ( Dass, PD; Kurtz, I, 1990)
"When patients present in hyperammonemic coma, the urea cycle disorders should be considered, especially if no obvious cause is identified."	2.38	Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. ( Klinger, RJ; Lo, WD; Sloan, HR; Sotos, JF, 1993)
"Neonatal seizures, as distinguished from nonconvulsive abnormal movements, are a significant problem in neonatal intensive care units."	2.37	Neonatal seizures. ( Bergman, I; Crumrine, P; Painter, MJ, 1986)
"Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA."	1.72	Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology. ( Arrieta, F; Belanger-Quintana, A; Del Valle, M; Fernandez-Felix, BM; Garcia, F; Martinez-Pardo, M; Ruiz-Sala, P; Stanescu, S, 2022)
"Hyperammonemia is a common finding in patients with methylmalonic acidemia."	1.48	Ammonia role in glial dysfunction in methylmalonic acidemia. ( Arend, J; Barbosa, S; do Nascimento, PS; Dos Santos, ARS; Fighera, MR; Furian, AF; Gabbi, P; Haupental, F; Nogueira, V; Oliveira, MS; Rodrigues, FS; Royes, LFF, 2018)
"Seven neonates had seizures; six had only electrographic seizures."	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)
"Carglumic acid was well tolerated with no side effects noted."	1.39	Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. ( Abacan, M; Boneh, A, 2013)
"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)
"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)
"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)
"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)
"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)
"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)
"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)
"OTC deficiency was diagnosed by family history of early death of newborn males on the maternal side and characteristic biochemical findings."	1.29	Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency. ( Hou, JW; Wang, TR, 1996)
"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)
"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)
"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)
"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)
"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)
" 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)
"Carnitine status was evaluated in 8 patients with partial ornithine transcarbamylase (OTC) deficiency and 19 patients with secondary carnitine deficiency, who were used as positive references."	1.27	Hyperammonemia related to carnitine metabolism with particular emphasis on ornithine transcarbamylase deficiency. ( Matsuda, I; Ohtani, Y; Ohyanagi, K; Yamamoto, S, 1987)
"9% of the mean value in controls) in combination with an intermediate activity of L-ornithine: 2-oxoglutarate aminotransferase (40% of the mean value in controls)."	1.27	A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase. ( Beemer, FA; Desplanque, J; Gerards, LJ; van der Heiden, C; van Dijk, HA, 1983)
"Today we know a great number of inborn errors of metabolism which can be treated by a special diet."	1.27	[Nutrition in congenital metabolic diseases]. ( Plöchl, E, 1984)
"The coincidence of a pre-stage of systemic lupus erythematosus (SLE) and LPI is not excluded."	1.27	Immunological abnormalities in a patient with lysinuric protein intolerance. ( Aoki, K; Kawamura, G; Koda, N; Kono, S; Nagata, M; Suzuki, M; Yamaguchi, S, 1987)
"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)
"Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment."	1.27	[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline]. ( de Parscau, L; Divry, P; Guibaud, P; Hermier, M; Vianey-Liaud, C, 1988)
"Orotic aciduria is a reliable indicator of the function of the urea cycle in lysinuric protein intolerance and facilitates monitoring of the treatment of this disease."	1.26	Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. ( Rajantie, J, 1981)
"A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram."	1.26	Arginase deficiency in multiple tissues in argininemia. ( Beaudet, AL; Michels, VV, 1978)
"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)
"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)

Research

Studies (453)

Authors

Clinical Trials (3)

Trial Overview

Trial Outcomes

Number of Subjects Experienced Adverse Events

Timeframe	Studies, this research(%)	All Research%
pre-1990	294 (64.90)	18.7374
1990's	128 (28.26)	18.2507
2000's	12 (2.65)	29.6817
2010's	15 (3.31)	24.3611
2020's	4 (0.88)	2.80

Authors	Studies
Stanescu, S	1
Belanger-Quintana, A	1
Fernandez-Felix, BM	1
Ruiz-Sala, P	1
Del Valle, M	1
Garcia, F	1
Arrieta, F	1
Martinez-Pardo, M	1
Belanger, AJ	1
Gefteas, E	1
Przybylska, M	1
Geller, S	1
Anarat-Cappillino, G	1
Kloss, A	1
Yew, NS	1
Du, M	1
Wu, S	1
Su, C	1
Wang, X	1
Li, B	1
Lin, Y	1
Yuan, S	1
Chen, Y	1
Zhu, C	1
Wei, H	1
Spada, M	1
Porta, F	1
Righi, D	1
Gazzera, C	1
Tandoi, F	1
Ferrero, I	1
Fagioli, F	1
Sanchez, MBH	1
Calvo, PL	1
Biamino, E	1
Bruno, S	1
Gunetti, M	1
Contursi, C	1
Lauritano, C	1
Conio, A	1
Amoroso, A	1
Salizzoni, M	1
Silengo, L	1
Camussi, G	1
Romagnoli, R	1
Celik, M	1
Akdeniz, O	1
Ozgun, N	1
Gabbi, P	1
Nogueira, V	1
Haupental, F	1
Rodrigues, FS	1
do Nascimento, PS	1
Barbosa, S	1
Arend, J	1
Furian, AF	1
Oliveira, MS	1
Dos Santos, ARS	1
Royes, LFF	1
Fighera, MR	1
Wiwattanadittakul, N	1
Prust, M	1
Gaillard, WD	1
Massaro, A	1
Vezina, G	1
Tsuchida, TN	1
Gropman, AL	1
Abacan, M	1
Boneh, A	1
Zwickler, T	2
Riderer, A	2
Haege, G	2
Hoffmann, GF	2
Kölker, S	3
Burgard, P	2
Yap, S	1
Leong, HY	1
Abdul Aziz, F	1
Hassim, H	1
Sthaneshwar, P	1
Teh, SH	1
Abdullah, IS	1
Ngu, LH	1
Mohamed, Z	1
Brannelly, NT	1
Hamilton-Shield, JP	1
Killard, AJ	1
Valayannopoulos, V	1
Baruteau, J	1
Delgado, MB	1
Cano, A	1
Couce, ML	1
Del Toro, M	1
Donati, MA	3
Garcia-Cazorla, A	1
Gil-Ortega, D	1
Gomez-de Quero, P	1
Guffon, N	2
Hofstede, FC	1
Kalkan-Ucar, S	1
Coker, M	1
Lama-More, R	1
Martinez-Pardo Casanova, M	1
Molina, A	1
Pichard, S	1
Papadia, F	1
Rosello, P	1
Plisson, C	1
Le Mouhaer, J	1
Chakrapani, A	1
Forny, P	1
Schumann, A	1
Mustedanagic, M	1
Mathis, D	1
Wulf, MA	1
Nägele, N	1
Langhans, CD	1
Zhakupova, A	1
Heeren, J	1
Scheja, L	1
Fingerhut, R	1
Peters, HL	1
Hornemann, T	1
Thony, B	1
Burda, P	1
Froese, DS	1
Devuyst, O	1
Baumgartner, MR	1
Filippi, L	1
Gozzini, E	1
Fiorini, P	1
Malvagia, S	1
la Marca, G	1
Scholl-Bürgi, S	1
Sass, JO	1
Zschocke, J	1
Karall, D	1
Kasapkara, CS	1
Ezgu, FS	1
Okur, I	1
Tumer, L	1
Biberoglu, G	1
Hasanoglu, A	1
Hörster, F	1
Viegas, CM	2
Busanello, EN	2
Tonin, AM	2
Grings, M	1
Moura, AP	2
Ritter, L	1
Zanatta, A	2
Knebel, LA	1
Lobato, VA	1
Pettenuzzo, LF	1
Vargas, CR	1
Leipnitz, G	2
Wajner, M	2
Seminotti, B	1
Fernandes, CG	1
Lukkarinen, M	3
Näntö-Salonen, K	3
Pulkki, K	2
Aalto, M	1
Simell, O	12
CONSTANTSAS, NS	1
DANELATOU-ATHANASSIADOU, C	1
LEDERER, J	1
Prasad, C	1
Nurko, S	1
Borovoy, J	1
Korson, MS	1
Cleary, MA	2
Dorland, L	1
de Koning, TJ	1
Poll-The, BT	1
Duran, M	1
Mandell, R	4
Shih, VE	10
Berger, R	3
Olpin, SE	1
Besley, GT	1
Moosa, NV	1
Minal, D	1
Rao, AN	1
Kumar, A	1
Rose, C	1
Jalan, R	1
Tanner, LM	1
Niinikoski, H	1
Huoponen, K	1
Nordenström, A	1
Halldin, M	1
Hallberg, B	1
Alm, J	1
Enns, GM	1
Berry, SA	3
Berry, GT	3
Rhead, WJ	1
Brusilow, SW	20
Hamosh, A	1
Colombo, JP	26
Vassella, F	1
Humbel, R	1
Buergi, W	1
Levin, B	6
Russell, A	2
Mohyuddin, F	1
Rathbun, JC	1
McMurray, WC	1
Westall, RG	1
Morrow, G	1
Moser, HW	2
Efron, ML	3
Brown, H	1
Diamond, R	1
Neumann, CG	1
Soriano, JR	1
Taitz, LS	1
Finberg, L	1
Edelmann, CM	1
Kekomäki, M	3
Visakorpi, JK	3
Perheentupa, J	4
Saxén, L	1
Tripp, JH	1
Hargreaves, T	1
Anthony, PP	1
Searle, JF	1
Miller, P	1
Leonard, JV	7
Patrick, AD	1
Oberholzer, VG	3
Gray, RG	4
Hill, SE	2
Pollitt, RJ	5
Holt, JT	1
Arvan, DA	1
Mayer, TK	1
Verma, NP	1
Hart, ZH	1
Kooi, KA	1
Brusilow, S	3
Tinker, J	1
Batshaw, ML	20
Mowat, AP	1
D'Eufemia, P	2
Corrado, G	1
Sabetta, G	2
Castro, M	1
Martino, F	1
Cantani, A	1
Ruberto, U	1
Visek, WJ	1
Hardell, LI	3
Stålnacke, CG	1
Lundqvist, H	1
Malmborg, P	1
Långström, B	1
Qureshi, IA	16
Letarte, J	7
Ouellet, R	6
Larochelle, J	1
Lemieux, B	2
Kato, T	3
Mizutani, N	2
Ban, M	1
Oka, S	1
Igarashi, Y	1
Narisawa, K	3
Tada, K	7
Danney, M	1
Waber, LJ	1
Batshaw, M	1
Burton, B	1
Levitsky, L	1
Roth, K	1
McKeethren, C	1
Ward, J	1
Saheki, T	10
Imamura, Y	1
Inoue, I	7
Miura, S	1
Mori, M	6
Ohtake, A	6
Tatibana, M	3
Katsumata, N	1
Ohno, T	3
Endres, W	1
Schaller, R	1
Shin, YS	1
Nicolaides, K	1
Rodeck, CH	1
Thomas, GH	2
Cohen, SR	1
Matalon, R	3
Mahoney, MJ	3
Wilson, WG	1
Audenaert, SM	1
Squillaro, EJ	1
Graf, L	1
McIntyre, P	1
Hoogenraad, N	1
Brown, G	1
Haan, EA	2
Metoki, K	4
Hommes, FA	4
Dyken, P	1
Kelloes, C	1
Trefz, J	1
Becroft, DM	1
Barry, DM	1
Webster, DR	1
Simmonds, HA	1
Bachmann, C	14
Hayasaka, S	1
Yabata, K	1
Ohmura, M	1
Nomura, H	1
Takase, S	1
Asanuma, K	1
Takeuchi, Y	1
Kanda, M	1
Kikuchi, Y	1
Yano, N	1
Kakinuma, H	2
Plöchl, E	4
Naughten, ER	1
Flavin, MP	1
O'Brien, NG	1
Van de Bor, M	1
Mooy, P	1
van Zoeren, D	1
van Gelderen, HH	1
Teijema, HL	1
Roesel, RA	2
Coryell, ME	1
Blankenship, PR	1
Jaeken, J	2
Devlieger, H	1
Evens, M	1
Casaer, P	1
Eggermont, E	2
Takayanagi, M	4
Ogura, N	2
Nakajima, H	3
Maehara, M	1
Hayakawa, C	1
Watanabe, K	2
Suzuki, S	1
Mendiola, J	1
Robotham, JL	1
Liehr, JG	1
Williams, JC	1
Msall, M	2
Suss, R	1
Mellits, ED	2
Prensky, AL	1
Fishbein, WN	1
Joosten, E	1
van Bennekom, C	1
Oerlemans, F	1
De Bruyn, C	1
Oei, T	1
Trijbels, J	1
Sakiyama, T	2
Nakabayashi, H	1
Shimizu, H	3
Kondo, W	1
Kodama, S	1
Kitagawa, T	2
Hoshino, M	1
Oizumi, J	2
Ng, WG	2
Koch, R	3
Shaw, KN	3
Sweetman, L	3
Velazquez, A	1
Donnell, GN	1
Harding, BN	1
Erdohazi, M	1
Trauner, DA	1
Self, TW	1
Van Gennip, AH	1
Van Bree-Blom, EJ	1
Grift, J	1
DeBree, PK	1
Wadman, SK	3
Matsushima, A	1
Orii, T	1
Herzfeld, A	2
Coude, FX	5
Ogier, H	4
Charpentier, C	6
Cathelineau, L	9
Grimber, G	2
Parvy, P	1
Saudubray, JM	11
Frezal, J	3
Sanjurjo, P	2
Jaquotot, C	1
Vallo, A	1
Uriarte, R	1
Prats, JM	1
Ugarte, M	2
Rodríguez Soriano, J	1
Francois, B	1
Briand, P	4
Takeda, E	1
Kuroda, Y	1
Toshima, K	1
Watanabe, T	1
Naito, E	1
Miyao, M	1
Kendall, BE	1
Kingsley, DP	1
Lingam, S	1
van der Heiden, C	3
Beemer, FA	1
van Dijk, HA	1
Desplanque, J	3
Gerards, LJ	2
Margalith, D	1
Crichton, JU	1
Wong, L	1
Davidson, AG	1
Applegarth, DA	2
Toone, JR	2
Kodama, H	3
Kamoshita, S	1
Motokawa, Y	1
Spector, EB	1
Mazzocchi, RA	1
Yoshino, M	5
Yoshida, I	2
Yamashita, F	4
Uchiyama, C	2
Prusiner, SB	1
Waber, L	1
Blom, W	2
Brubakk, AM	2
Burton, BK	1
Cann, HM	1
Kerr, D	1
Mamunes, P	1
Myerberg, D	1
Schafer, IA	1
Teijema, LL	1
Stöllinger, O	1
Rassem, T	1
Czihak, G	1
del Valle, JA	1
Urbón, A	1
García, MJ	1
Cuadrado, P	1
Bohan, TP	1
Roe, CR	2
Sakane, Y	1
Sugimoto, T	1
Szentpéteri, J	1
Kovács, J	1
Földes, G	1
Amir, J	1
Alpert, G	1
Statter, M	3
Gutman, A	1
Reisner, SH	1
Kubota, K	1
Murakami, T	1
Sakaguchi, Y	1
Yuge, K	1
Hashimoto, T	1
Tateda, H	1
Nyhan, WL	5
Rubio, V	2
Jordá, A	1
Grisolia, S	1
Gutierez, F	1
Canosa, C	1
Nose, O	1
Okada, S	1
Yabuuchi, H	1
Jaggi, K	1
Grisar, T	1
Suzuki, T	1
Owada, M	1
Yudkoff, M	3
Yang, W	1
Snodgrass, PJ	6
Segal, S	1
Schuchmann, L	1
Fischer, H	1
Cox, KL	1
Cannon, RA	1
Walser, M	3
Nagata, N	2
Akaboshi, I	2
Yamamoto, J	2
Matsuda, I	10
Ohtsuka, H	1
Katsuki, T	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
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
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
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

(NCT00551200)
Timeframe: during the period on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)

Number of Subjects Experienced Serious Adverse Events

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)

Drug Preference for HPN-100 or Buphenyl® (as Assessed by Global Preference Question)

Pharmacokinetics (Plasma and Urine PK Parameters of Study Drugs and Their Metabolites)

Intervention	participants (Number)
Buphenyl	1
HPN-100	0

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)

Venous Ammonia Levels at the Peak and Mean TNUAC Time-normalized Area Under the Curve)

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

Arginine Levels

Argininosuccinic Acid Levels

Measures of Liver Function: INR

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

Intervention	micromoles/L (Median)
High-dose Arginine Alone	129
Low-dose Arginine Plus Buphenyl	53

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

Urea Production Rate

Measures of Liver Function: AST and ALT

Intervention	seconds (Mean)
Low-dose Arginine Plus Buphenyl	14.2
High Dose Arginine Alone	13.8

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

Measures of Liver Function: Coagulation Factors

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

Measures of Liver Function: PT and PTT

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

Reviews

43 reviews available for ammonium hydroxide and Amino Acid Metabolism Disorders, Inborn

Trials

5 trials available for ammonium hydroxide and Amino Acid Metabolism Disorders, Inborn

Other Studies

405 other studies available for ammonium hydroxide and Amino Acid Metabolism Disorders, Inborn

Article	Year
The Measurement of Ammonia in Human Breath and its Potential in Clinical Diagnostics. Critical reviews in analytical chemistry, 2016, Volume: 46, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Breath Tests; Humans; Hyperinsulinism; Hypoglycemia;	2016
Amino acid metabolism in patients with propionic acidaemia. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Citric Acid Cycle; Diet;	2012
Hepatic Disorders. Clinics in gastroenterology, 1982, Volume: 11, Issue:1 Topics: Adolescent; Adult; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Ammonia; Ch	1982
[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases]. Minerva pediatrica, 1983, Mar-15, Volume: 35, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diagnosis, Differential; Female; Humans; Infant; Infa	1983
An update of concepts of essential amino acids. Annual review of nutrition, 1984, Volume: 4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Arginine; Atrophy; C	1984
Disorders of glutamate metabolism and neurological dysfunction. Annual review of medicine, 1981, Volume: 32 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; gamma-Aminobutyric Acid; Glutamates; Glutami	1981
Some regulatory aspects of urea synthesis. Enzyme, 1981, Volume: 26, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Citric Acid Cycle; Dieta	1981
N-acetylglutamate synthetase (NAGS) deficiency. Advances in experimental medicine and biology, 1994, Volume: 368 Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A	1994
Inborn errors of urea synthesis. Annals of neurology, 1994, Volume: 35, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Diagnosis, Di	1994
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. American journal of diseases of children (1960), 1993, Volume: 147, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Biopsy; Body Hei	1993
Urea cycle disorders: diagnosis, pathophysiology, and therapy. Advances in pediatrics, 1996, Volume: 43 Topics: Adolescent; Algorithms; Alkalosis, Respiratory; Amino Acid Metabolism, Inborn Errors; Ammonia; Child	1996
[Argininosuccinate lyase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Lyase; Argininosuccinic Acid; Argin	1998
[Hyperornithinemia-hyperammonemia-homocitrullinuria (H.H.H.) syndrome]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Diagnosis, Differential; Humans; Infant,	1998
[Lysinuric protein intolerance and other cationic aminoacidurias]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diagnosis, Differential; Diet, Protein-Restricted; Hu	1998
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency. Liver transplantation and surgery : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 1998, Volume: 4, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Follow-Up Studies; Humans; Infant; Infant,	1998
[Inherited hyperammonemia]. Przeglad lekarski, 1998, Volume: 55, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Consciousness Disorders; Diagnosis, Differential; Hum	1998
Treatment of urea cycle disorders. The Journal of pediatrics, 1999, Volume: 134, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Antimetabolites; Child, Preschool; Drug Combinations;	1999
Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism. Seminars in perinatology, 1999, Volume: 23, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Infant, Newborn; Ketosis; Nervous System	1999
[Disorders of the urea cycle]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Human	2000
Organic acidemias. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Acidosis, Renal Tubular; Acids; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammoni	1976
Keto analogues of essential amino acids in treatment of human diseases. Nutrition reviews, 1976, Volume: 34, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Carbamoyl-Phosphate	1976
Metabolic mechanisms in Reye syndrome. End of a Mystery? American journal of diseases of children (1960), 1976, Volume: 130, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspirin; Brain Diseases; Carbamoyl-Phosphate Synthase	1976
Nutritional effects of nitrogen-free analogues of essential amino acids. Life sciences, 1975, Oct-10, Volume: 17, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Humans; Keto Acids;	1975
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. Journal of pediatric gastroenterology and nutrition, 1992, Volume: 15, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Coagulation Disorders; Child, Preschool; Citrul	1992
Ornithine carbamoyl transferase deficiency: findings, models and problems. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans;	1992
[Adverse effects of branched chain amino acid transfusion on type-II citrullinemia--report of an adult case]. Rinsho shinkeigaku = Clinical neurology, 1991, Volume: 31, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Argininosuccinate	1991
Renal ammonia and bicarbonate production in chronic renal failure. Mineral and electrolyte metabolism, 1990, Volume: 16, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Bicarbonates; gamma-Glutamyltransferase; Glu	1990
Treating genetic diseases: lessons from three children. Pediatric research, 1990, Volume: 27, Issue:6 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Diseases, Inborn; Genetic Therapy; Hum	1990
[Late diagnosis of congenital argininemia during administration of sodium valproate]. Revue neurologique, 1990, Volume: 146, Issue:12 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Epilepsy; Female; Humans; Psych	1990
[Differential diagnosis of genetically-induced hyperammonemias]. Kinderarztliche Praxis, 1988, Volume: 56, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Diagnosis, Differential; Enzymes; F	1988
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches. Reviews of physiology, biochemistry and pharmacology, 1987, Volume: 108 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synth	1987
Inborn errors of the urea cycle. British journal of hospital medicine, 1987, Volume: 38, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Infant; Infant, Newborn; Pregn	1987
Urea cycle disorders, hyperammonemia and neurotransmitter changes. Enzyme, 1987, Volume: 38, Issue:1-4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain Chemistry; Rats; Serotonin; Tryptophan	1987
Treatment of urea cycle disorders. Enzyme, 1987, Volume: 38, Issue:1-4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Dietary Proteins; H	1987
[Hyperammonemias of childhood. I. Enzymopathies of the urea cycle]. Pediatria polska, 1987, Volume: 62, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Humans	1987
Neonatal seizures. Pediatric clinics of North America, 1986, Volume: 33, Issue:1 Topics: Adrenoleukodystrophy; Amino Acid Metabolism, Inborn Errors; Ammonia; Anesthetics, Local; Anticonvuls	1986
Genetically expressed abnormalities in the fetus. Clinical obstetrics and gynecology, 1974, Volume: 17, Issue:3 Topics: Adrenal Insufficiency; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Ammonia; Anemia, S	1974
Phenylketonuria and other disorders of amino acid metabolism. Pediatric clinics of North America, 1973, Volume: 20, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; C	1973
Arginnosuccinic aciduria. Nutrition reviews, 1967, Volume: 25, Issue:8 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Blood Urea Nitrogen; C	1967
[Feeble mindedness caused by genetic disorders of amino acid metabolism]. Hippokrates, 1968, May-31, Volume: 39, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi	1968
[Ammonia nitrogen and amino nitrogen--how to read its figures]. Nihon rinsho. Japanese journal of clinical medicine, 1971, Volume: 29 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Blood Chemical Analys	1971
Hereditary metabolic disorders of the urea cycle. Advances in clinical chemistry, 1971, Volume: 14 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Aspartic Acid; Carbamates; Citrul	1971
Congenital disorders of the urea cycle and ammonia detoxication. Monographs in paediatrics, 1971, Volume: 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain; Chromosome Aberrations; Fetus; Humans	1971

Article	Year
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study. Stem cell reviews and reports, 2020, Volume: 16, Issue:1 Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Cell Differe	2020
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Orphanet journal of rare diseases, 2016, Mar-31, Volume: 11 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glutamates; Humans; Hyperammonemia; Infant, N	2016
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. The New England journal of medicine, 2007, May-31, Volume: 356, Issue:22 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. The New England journal of medicine, 1996, Sep-19, Volume: 335, Issue:12 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Brain Diseases;	1996
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal. Biochemical and molecular medicine, 1996, Volume: 57, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine	1996

Intervention	seconds (Mean)
	PT	PTT
High Dose Arginine Alone	13.8	30.98
Low-dose Arginine Plus Buphenyl	14.25	30.91

Authors	Studies
Stanescu, S	1
Belanger-Quintana, A	1
Fernandez-Felix, BM	1
Ruiz-Sala, P	1
Del Valle, M	1
Garcia, F	1
Arrieta, F	1
Martinez-Pardo, M	1
Belanger, AJ	1
Gefteas, E	1
Przybylska, M	1
Geller, S	1
Anarat-Cappillino, G	1
Kloss, A	1
Yew, NS	1
Du, M	1
Wu, S	1
Su, C	1
Wang, X	1
Li, B	1
Lin, Y	1
Yuan, S	1
Chen, Y	1
Zhu, C	1
Wei, H	1
Spada, M	1
Porta, F	1
Righi, D	1
Gazzera, C	1
Tandoi, F	1
Ferrero, I	1
Fagioli, F	1
Sanchez, MBH	1
Calvo, PL	1
Biamino, E	1
Bruno, S	1
Gunetti, M	1
Contursi, C	1
Lauritano, C	1
Conio, A	1