urea and Hyperammonemia studies

pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.

Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.

Research Excerpts

Excerpt	Relevance	Reference
"Hyperammonemia is one of the major symptoms of primary carnitine deficiency."	8.80	Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: a study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice. ( Kobayashi, K; Li, MX; Saheki, T, 2000)
" 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)
"A patient with gastric cancer developed delirium and hyperammonemia after chemotherapy with the 5-fluorouracil pro-drug capecitabine."	7.91	Hyperammonemia after capecitabine associated with occult impairment of the urea cycle. ( Chu, G; Salzman, J, 2019)
"Children with urea cycle disorders (UCDs) or organic acidemias (OAs) and acute hyperammonemia and encephalopathy are at great risk for neurological injury, developmental delay, intellectual disability, and death."	7.79	Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. ( Baumgart, S; Cook, N; Dimmock, D; Lichter-Konecki, U; Meyer, MT; Moudgil, A; Nadkarni, V; Poeschl, J, 2013)
" The present study was undertaken to examine the protective influence of rutin, a polyphenolic flavonoid, on oxidative stress during ammonium chloride (AC)-induced hyperammonemia by measuring the levels of oxidative damage as well as antioxidant status."	7.78	Influence of rutin on biochemical alterations in hyperammonemia in rats. ( Mahmoud, AM, 2012)
"Juvenile visceral steatosis (JVS) mouse is an animal model of human primary carnitine deficiency caused by a mutation of the gene encoding carnitine transporter, and suffers from various symptoms, such as fatty liver, growth retardation, hyperammonemia, hypoglycemia, and cardiac hypertrophy."	7.71	Hyperammonemia in carnitine-deficient adult JVS mice used by starvation. ( Horiuchi, M; Jalil, A; Kobayashi, K; Li, XX; Saheki, T; Yoshida, G, 2002)
"The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline."	6.58	Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. ( Mew, NA; Summar, ML, 2018)
"Hyperammonemia is a consistent finding in many neurological disorders including congenital urea cycle disorders, reye's syndrome and acute liver failure leads to deleterious effects."	6.53	Clinical aspects of urea cycle dysfunction and altered brain energy metabolism on modulation of glutamate receptors and transporters in acute and chronic hyperammonemia. ( Arumugam, R; Mani, R; Natesan, V, 2016)
"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)
"Hyperammonemia is a common complication of a wide variety of both inherited and acquired liver diseases."	5.48	Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. ( Allegri, G; Annunziata, P; Ballabio, A; Brunetti-Pierri, N; Häberle, J; Melck, D; Motta, A; Nusco, E; Paris, D; Pastore, N; Polishchuk, E; Soria, LR; Thöny, B, 2018)
"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)
"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)
"The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality."	4.81	Laboratory evaluation of urea cycle disorders. ( Cederbaum, SD; Steiner, RD, 2001)
" Disruptions of glutamate metabolism have been implicated in other clinical disorders, such as pyridoxine-dependent seizures, confirming the importance of intact glutamate metabolism."	4.81	Disorders of glutamate metabolism. ( Kelly, A; Stanley, CA, 2001)
" 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)
"Life-threatening hyperammonemia occurs in both inherited and acquired liver diseases affecting ureagenesis, the main pathway for detoxification of neurotoxic ammonia in mammals."	4.12	O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. ( Arena, P; Attanasio, S; Boffa, I; Brunetti-Pierri, N; Cuomo, P; D'Alessio, AM; De Angelis, A; Desviat, LR; Ferenbach, AT; Häberle, J; Lipshutz, GS; Makris, G; Martínez-Pizarro, A; Motta, A; Nitzahn, M; Nusco, E; Paris, D; Pravata, VM; Richard, E; Rüfenacht, V; Soria, LR; van Aalten, DMF, 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)
"Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delays, spastic diplegia, psychomotor function loss, and (uncommonly) death."	3.91	Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. ( Allegri, G; Burke, KE; Cederbaum, SD; Häberle, J; Lipshutz, GS; Liu, XB; Martini, PGV; Truong, B; Zhu, X, 2019)
"A patient with gastric cancer developed delirium and hyperammonemia after chemotherapy with the 5-fluorouracil pro-drug capecitabine."	3.91	Hyperammonemia after capecitabine associated with occult impairment of the urea cycle. ( Chu, G; Salzman, J, 2019)
"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)
"Argininosuccinic aciduria (ASA) is the second most common genetic disorder affecting the urea cycle."	3.88	Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. ( Ashley, SN; Buza, EL; Greig, JA; Nordin, JML; Wilson, JM, 2018)
"The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive."	3.85	Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis. ( Garavelli, L; Ivanovski, A; Ivanovski, I; Ivanovski, P; Ješić, M, 2017)
"Children with urea cycle disorders (UCDs) or organic acidemias (OAs) and acute hyperammonemia and encephalopathy are at great risk for neurological injury, developmental delay, intellectual disability, and death."	3.79	Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. ( Baumgart, S; Cook, N; Dimmock, D; Lichter-Konecki, U; Meyer, MT; Moudgil, A; Nadkarni, V; Poeschl, J, 2013)
" The present study was undertaken to examine the protective influence of rutin, a polyphenolic flavonoid, on oxidative stress during ammonium chloride (AC)-induced hyperammonemia by measuring the levels of oxidative damage as well as antioxidant status."	3.78	Influence of rutin on biochemical alterations in hyperammonemia in rats. ( Mahmoud, AM, 2012)
" Cyclophosphamide caused hyperammonemia; glutamine/ammonia and urea/ammonia ratios in the blood decreased."	3.78	Aggravation of cyclophosphamide-induced acute neurological disorders under conditions of artificial acidification of chyme in rats. ( Ivnitsky, JJ; Malakhovsky, VN; Rejuniuk, VL; Schaefer, TV, 2012)
"Hyperammonemia is a frequent side-effect of valproic acid (VPA) therapy, which points to an imbalance between ammoniagenesis and ammonia disposal via the urea cycle."	3.77	New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA. ( Aires, CC; de Almeida, IT; Duran, M; Ijlst, L; Silva, MF; van Cruchten, A; Wanders, RJ, 2011)
"Hyperammonemia as a result of urinary tract infection with urea-spliting bacteria."	3.74	Urea-splitting urinary tract infection contributing to hyperammonemic encephalopathy. ( Albersen, M; Cuyle, PJ; Joniau, S; Knockaert, DC; Meersseman, W; Van Poppel, H, 2007)
"To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features."	3.73	[Clinical and laboratory screening studies on urea cycle defects]. ( Bao, XH; Chang, XZ; Li, L; Li, M; Qi, Y; Qian, N; Qin, J; Song, JQ; Sun, F; Wang, S; Wang, SQ; Wu, XR; Yang, HY; Yang, YL; Zhang, YH, 2005)
"The effects of alpha-ketoglutarate (alpha-KG) on hyperammonemia induced by ammonium acetate were studied biochemically in experimental rats."	3.71	Effects of alpha-ketoglutarate on antioxidants and lipid peroxidation products in rats treated with ammonium acetate. ( Dakshayani, KB; Subramanian, P; Velvizhi, S, 2002)
"Juvenile visceral steatosis (JVS) mouse is an animal model of human primary carnitine deficiency caused by a mutation of the gene encoding carnitine transporter, and suffers from various symptoms, such as fatty liver, growth retardation, hyperammonemia, hypoglycemia, and cardiac hypertrophy."	3.71	Hyperammonemia in carnitine-deficient adult JVS mice used by starvation. ( Horiuchi, M; Jalil, A; Kobayashi, K; Li, XX; Saheki, T; Yoshida, G, 2002)
"An effective and rapid treatment of hyperammonemia is crucial to prevent irreversible neurological damage and it depends on the understanding of the pathophysiology of the diseases, as well as of the available therapeutic approaches."	2.82	Hyperammonemia in Inherited Metabolic Diseases. ( Deon, M; Lopes, FF; Ribas, GS; Vargas, CR, 2022)
"The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline."	2.58	Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. ( Mew, NA; Summar, ML, 2018)
"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)
"When hyperammonemia is not thought to be the result of liver failure, treatment for an occult disorder of metabolism must begin prior to the confirmation of an etiology."	2.44	Hyperammonemia in the ICU. ( Clay, AS; Hainline, BE, 2007)
"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)
" This involves the long-term use of oral sodium phenylbutyrate, arginine supplements, or both, depending on the specific enzyme deficiency, and treatment of acute hyperammonemic crises with intravenous sodium benzoate/sodium phenylacetate plus arginine."	2.41	Alternative pathway therapy for urea cycle disorders: twenty years later. ( Batshaw, ML; MacArthur, RB; Tuchman, M, 2001)
" Four Phase 1 studies were conducted to characterize the bioavailability (BA) and/or bioequivalence (BE) of ACER-001 (in healthy volunteers) and taste assessment relative to NaPBA powder (in taste panelists)."	1.91	Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders. ( Cederbaum, SD; Edwards, J; Kellmeyer, T; Peters, Y; Steiner, RD, 2023)
"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)
"Acute liver failure was present in 4 (25%) and acute-on-chronic liver failure in 8 (75%)."	1.72	Ammonia Clearance with Different Continuous Renal Replacement Therapy Techniques in Patients with Liver Failure. ( Baldwin, I; Bellomo, R; Fealy, N; Fisher, C; Naorungroj, T, 2022)
" Users rated the test as "often helpful" for ruling out PAA toxicity (44%), informing PB dosing decisions (42%), and assessing adherence (28%)."	1.72	Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. ( Burdett, A; Ficicioglu, C; Hata, A; Liu, N; Porter, M; Sun, Q; Sutton, VR, 2022)
"Hyperammonemia was diagnosed in all cases during the evaluation of altered mental status, with 22% presenting with seizures."	1.56	A retrospective study of adult patients with noncirrhotic hyperammonemia. ( Baker, JJ; Barkoudah, E; Berry, GT; Khoury, CC; Krier, JB; Lin, AP; Mogensen, KM; Peake, RW; Sahai, I; Stergachis, AB; Sweetser, DA, 2020)
"Given the growing number of cancers treated with 5-FU and the paucity of data regarding this ADR, we performed a retrospective national survey to better characterise 5-FU-induced hyperammonaemic encephalopathy."	1.56	5-Fluorouracil-induced hyperammonaemic encephalopathy: A French national survey. ( Boige, V; Boilève, A; Chouchana, L; Ducreux, M; Gaboriau, L; Hillaire-Buys, D; Hollebecque, A; Jozwiak, M; Lillo-Le Louët, A; Malka, D; Thomas, L, 2020)
"Hyperammonemia is a common complication of a wide variety of both inherited and acquired liver diseases."	1.48	Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. ( Allegri, G; Annunziata, P; Ballabio, A; Brunetti-Pierri, N; Häberle, J; Melck, D; Motta, A; Nusco, E; Paris, D; Pastore, N; Polishchuk, E; Soria, LR; Thöny, B, 2018)
" Both biochemical and morphological studies clearly revealed that chrysin protects against cell injury induced by ammonia intoxication in a dose-response manner with respect to endogenous antioxidants and hypoammonemic effects."	1.43	Chrysin, a flavonoid attenuates histological changes of hyperammonemic rats: A dose dependent study. ( Ramakrishnan, A; Renuka, M; Vijayakumar, N, 2016)
"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)
"Hyperammonemia is encountered frequently in acutely ill children presenting for emergency care with altered levels of consciousness (ALOC)."	1.36	Hyperammonemia in the pediatric emergency care setting. ( Dabnon, M; Fouad, HM; Galal, NM; Saied, A, 2010)
"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)
"Cotreatment with morin prevented the elevation of liver marker enzymes induced by ammonium chloride."	1.35	Morin a flavonoid exerts antioxidant potential in chronic hyperammonemic rats: a biochemical and histopathological study. ( Subash, S; Subramanian, P, 2009)
"We here describe an infant with respiratory alkalosis within the first two days of life and a high plasma level of ammonia (> 700 micromol/L)."	1.35	[A newborn infant with hyperventilation]. ( Bakken, M; Fugelseth, D; Lindemann, R; Myhre, MC; Rustad, CF; Woldseth, B, 2008)
"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)
"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)

Research

Studies (121)

Authors

Clinical Trials (5)

Trial Overview

Trial Outcomes

Part B: Proportion of Subjects Who Exhibit an HE Episode, Defined as Either of the Following During the Treatment Phase: WH ≥2; WH Grade and Asterixis Grade Increase of 1 Each, if Baseline WH = 0

Timeframe	Studies, this research(%)	All Research%
pre-1990	2 (1.65)	18.7374
1990's	1 (0.83)	18.2507
2000's	55 (45.45)	29.6817
2010's	46 (38.02)	24.3611
2020's	17 (14.05)	2.80

Authors	Studies
Ribas, GS	1
Lopes, FF	1
Deon, M	1
Vargas, CR	1
Ficicioglu, C	1
Liu, N	1
Sun, Q	1
Burdett, A	1
Hata, A	1
Porter, M	1
Sutton, VR	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
Fisher, C	1
Baldwin, I	1
Fealy, N	1
Naorungroj, T	1
Bellomo, R	1
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
Han, ST	1
Anderson, KJ	1
Bjornsson, HT	1
Longo, N	1
Valle, D	1
Soria, LR	4
Makris, G	1
D'Alessio, AM	1
De Angelis, A	1
Boffa, I	1
Pravata, VM	1
Rüfenacht, V	1
Attanasio, S	1
Nusco, E	2
Arena, P	1
Ferenbach, AT	1
Paris, D	2
Cuomo, P	1
Motta, A	2
Nitzahn, M	1
Lipshutz, GS	2
Martínez-Pizarro, A	1
Richard, E	1
Desviat, LR	1
Häberle, J	6
van Aalten, DMF	1
Brunetti-Pierri, N	4
Yau, WW	1
Chen, GB	1
Zhou, J	1
Francisco, JC	1
Thimmukonda, NK	1
Li, S	1
Singh, BK	1
Yen, PM	1
Cederbaum, SD	3
Edwards, J	1
Kellmeyer, T	1
Peters, Y	1
Steiner, RD	3
Choi, J	1
Kim, JH	1
Truong, B	1
Allegri, G	3
Liu, XB	1
Burke, KE	1
Zhu, X	1
Martini, PGV	1
Driessen, LM	1
du Pré, BC	1
Schuit, SCE	1
Langendonk, JG	1
Zandbergen, AAM	1
Wagenmakers, MAEM	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
Boilève, A	1
Thomas, L	1
Lillo-Le Louët, A	1
Gaboriau, L	1
Chouchana, L	1
Ducreux, M	1
Malka, D	1
Boige, V	1
Hollebecque, A	1
Hillaire-Buys, D	1
Jozwiak, M	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
Stergachis, AB	1
Mogensen, KM	1
Khoury, CC	1
Lin, AP	1
Peake, RW	1
Baker, JJ	1
Barkoudah, E	1
Sahai, I	1
Sweetser, DA	1
Berry, GT	4
Krier, JB	1
Mikkelsen, ACD	1
Thomsen, KL	1
Vilstrup, H	1
Aamann, L	1
Jones, H	1
Mookerjee, RP	1
Hamilton-Dutoit, S	1
Frystyk, J	1
Aagaard, NK	1
Sonaimuthu, P	1
Senkevitch, E	1
Haskins, N	1
Uapinyoying, P	1
McNutt, M	1
Morizono, H	2
Tuchman, M	5
Caldovic, L	2
Beddoes, P	1
Nerone, G	1
Tai, C	1
Ramakrishnan, A	2
Vijayakumar, N	2
Meyburg, J	2
Opladen, T	2
Spiekerkötter, U	1
Schlune, A	1
Schenk, JP	1
Schmidt, J	1
Weitz, J	1
Okun, J	1
Bürger, F	1
Omran, TB	1
Abdoh, G	1
Al Rifai, H	1
Monavari, A	1
Konstantopoulou, V	1
Kölker, S	2
Yudkoff, M	3
Hoffmann, GF	2
Acosta, P	1
Nogueira, M	1
Gallagher, R	1
Waquim, C	1
Piroli, I	1
Carmona, R	1
Centeno, M	1
Motto, E	1
Ivanovski, I	1
Ješić, M	1
Ivanovski, A	1
Garavelli, L	1
Ivanovski, P	1
Melck, D	1
Pastore, N	1
Annunziata, P	1
Polishchuk, E	1
Thöny, B	2
Ballabio, A	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
Mew, NA	1
Ashley, SN	1
Nordin, JML	1
Buza, EL	1
Greig, JA	1
Wilson, JM	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
Nuoffer, JM	1
Grisch-Chan, HM	1
Qvartskhava, N	1
Jin, CJ	1
Buschmann, T	1
Albrecht, U	1
Bode, JG	1
Monhasery, N	1
Oenarto, J	1
Bidmon, HJ	1
Görg, B	1
Häussinger, D	1
Saheki, T	5
Moriyama, M	2
Kuroda, E	1
Funahashi, A	1
Yasuda, I	1
Setogawa, Y	1
Gao, Q	1
Ushikai, M	1
Furuie, S	1
Yamamura, KI	1
Takano, K	1
Nakamura, Y	2
Eto, K	1
Kadowaki, T	1
Sinasac, DS	2
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Tai, YH	1
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Trial	Phase	Enrollment	Study Type	Start Date	Status
A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of HPN-100 for Maintaining Remission in Subjects With Cirrhosis and Episodic Hepatic Encephalopathy[NCT00999167]	Phase 2	189 participants (Actual)	Interventional	2009-12-31	Completed
Effect of Polyethylene Glycol Versus Lactulose on Hepatic Encephalopathy in Patients With Liver Cirrhosis; a Randomized Clinical Trial (PEGHE Trial)[NCT04436601]	Phase 4	102 participants (Anticipated)	Interventional	2020-03-09	Recruiting
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 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]

"An HE event was defined as occurrences of either a West Haven (WH) Grade ≥2 or a WH Grade 1 and asterixis grade increase of 1 (if baseline WH = 0).~The WH criteria are widely used for rating the severity of HE and are summarized below:~Grade 1: trivial lack of awareness, euphoria or anxiety, shortened attention span, impaired performance of addition Grade 2: lethargy or apathy, minimal disorientation for time or place, subtle personality change, inappropriate behavior, impaired performance of subtraction Grade 3: somnolence to semi-stupor but responsive to verbal stimuli, confusion, gross disorientation Grade 4: coma (unresponsive to verbal or noxious stimuli)~Asterixis was assessed after arm and forearm extension along with wrist dorsiflexion for 30 seconds and assigned a grade according to the following criteria:~Grade 1: rare flaps Grade 2: occasional irregular flaps Grade 3: frequent flaps Grade 4: continuous flaps" (NCT00999167)
Timeframe: Part B: 112 Days

Time to Meeting the Primary Endpoint

Intervention	participants (Number)
HPN-100	19
Placebo	32

Secondary efficacy endpoint. The time to the first HE episode during the treatment period was calculated using the Kaplan-Meier method. Subjects who did not experience an HE episode were censored at the time of their last asterixis assessment. Subjects who had no post-randomization data for the primary endpoint were considered to have an HE episode at Day 1. (NCT00999167)
Timeframe: 112 Days

Total Number of HE Events

Intervention	Days (Median)
HPN-100	NA
Placebo	NA

Secondary efficacy endpoint. The total number of HE events during the treatment phase for subjects in the placebo and active arms. (NCT00999167)
Timeframe: 112 Days

Change From Baseline in Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) Score

Intervention	HE event (Number)
HPN-100	35
Placebo	57

Changes from Baseline to Day 56 and the Final Visit were compared between treatment groups using an ANCOVA model for the total index RBANS score ). The index score is a sum of the scores for each of the 5 individual domains (immediate memory, visuospatial/constructional, language, attention). The minimum and maximum total index scores are 40 and 160, respectively; a higher score is better. (NCT00999167)
Timeframe: Day 56, Final Visit (D112)

Part A: The Rate of AEs and Tolerability of HPN-100

Intervention	units on a scale (Least Squares Mean)
	Change from Baseline to D56 (Total Score)	Change from Baseline to Final Visit (Total Score)
HPN-100	-0.5	-10.7
Placebo	3.2	-9.7

Part A: The rate of AEs and tolerability of 6 mL and 9 mL doses of HPN-100 were considered the primary safety endpoints for Part A. Safety assessments included adverse events, laboratory tests (including ammonia, hematology, coagulation, liver function and serum chemistry parameters), vital signs, physical and neurological examinations, and electrocardiograms. (NCT00999167)
Timeframe: Part A: 28 days

Number of Subjects Experienced Adverse Events

Intervention	Subjects (Number)
	Any AE	Gastrointestinal disorders	Metabolism and nutrition disorders	Infection and infestations	Nervous system disorders	Blood and lymphatic system disorders	Injury, poisoning and procedural complications	Musculoskeletal and connective tissue disorders	Psychiatric disorders	Any SAE	Death
HPN-100 BID	11	9	7	4	4	2	2	2	2	5	2

(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

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

Article	Year
Hyperammonemia in Inherited Metabolic Diseases. Cellular and molecular neurobiology, 2022, Volume: 42, Issue:8 Topics: Ammonia; Fatty Acids; Humans; Hyperammonemia; Infant, Newborn; Metabolic Diseases; Urea	2022
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatric clinics of North America, 2018, Volume: 65, Issue:2 Topics: Ammonia; Emergency Treatment; Humans; Hyperammonemia; Infant; Infant, Newborn; Urea; Urea Cycle Diso	2018
Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:6 Topics: Ammonia; Animals; Autophagy; Glutamate-Ammonia Ligase; Glutamine; Homeostasis; Humans; Hyperammonemi	2019
Comprehensive characterization of ureagenesis in the spf Journal of inherited metabolic disease, 2019, Volume: 42, Issue:6 Topics: Age Factors; Aging; Ammonia; Animals; Disease Models, Animal; Humans; Hyperammonemia; Liver; Male; M	2019
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Archives of biochemistry and biophysics, 2013, Aug-15, Volume: 536, Issue:2 Topics: Amino-Acid N-Acetyltransferase; Ammonia; Animals; Glutamate-Ammonia Ligase; Humans; Hyperammonemia;	2013
Ammonia metabolism and hyperammonemic disorders. Advances in clinical chemistry, 2014, Volume: 67 Topics: Ammonia; Animals; Arginine; Biological Transport; Brain; Cell Membrane; Humans; Hyperammonemia; Hype	2014
Clinical aspects of urea cycle dysfunction and altered brain energy metabolism on modulation of glutamate receptors and transporters in acute and chronic hyperammonemia. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2016, Volume: 81 Topics: Amino Acid Transport System X-AG; Animals; Brain; Energy Metabolism; Humans; Hyperammonemia; Recepto	2016
[Rationale for the use of sodium benzoate in clinical hepatology]. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 1990, Volume: 42 Suppl Topics: Acetates; Adult; Animals; Child; Clinical Trials as Topic; Drug Evaluation, Preclinical; Glycine; He	1990
Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes, obesity & metabolism, 2009, Volume: 11, Issue:9 Topics: Adult; Ammonia; Animals; Arginine; Genetic Therapy; Humans; Hyperammonemia; Ornithine Carbamoyltrans	2009
Adult nonhepatic hyperammonemia: a case report and differential diagnosis. The American journal of medicine, 2010, Volume: 123, Issue:10 Topics: Ammonia; Diagnosis, Differential; Humans; Hyperammonemia; Liver Diseases; Male; Metabolism, Inborn E	2010
Severe hyperammonaemia in adults not explained by liver disease. Annals of clinical biochemistry, 2012, Volume: 49, Issue:Pt 3 Topics: Adult; Amino Acids; Ammonia; Biological Transport; Blood-Brain Barrier; Brain; Glutamine; Humans; Hy	2012
Cognitive outcome in urea cycle disorders. Molecular genetics and metabolism, 2004, Volume: 81 Suppl 1 Topics: Age of Onset; Child; Cognition Disorders; Female; Humans; Hyperammonemia; Intellectual Disability; M	2004
Unmasked adult-onset urea cycle disorders in the critical care setting. Critical care clinics, 2005, Volume: 21, Issue:4 Suppl 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. Critical care clinics, 2005, Volume: 21, Issue:4 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficie	2005
Nutritional management of urea cycle disorders. Critical care clinics, 2005, Volume: 21, Issue:4 Suppl Topics: Acute Disease; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chr	2005
Urea cycle disorders: clinical presentation outside the newborn period. Critical care clinics, 2005, Volume: 21, Issue:4 Suppl Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Child, Preschool; Fem	2005
[Hyperammonemia type II as an example of urea cycle disorder]. Wiadomosci lekarskie (Warsaw, Poland : 1960), 2006, Volume: 59, Issue:7-8 Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Coma; Female; Humans; Hyperammonemi	2006
Hyperammonemia in the ICU. Chest, 2007, Volume: 132, Issue:4 Topics: Acute Disease; Algorithms; Ammonia; Astrocytes; Brain; Brain Edema; Cerebral Hemorrhage; Critical Ca	2007
[Urea cycle disorders in adult patients]. Revue neurologique, 2007, Volume: 163, Issue:10 Topics: Adult; Animals; Child; Humans; Hyperammonemia; Metabolism, Inborn Errors; Urea	2007
Nutritional management of patients with urea cycle disorders. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:6 Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Diet Therapy; Enzymes; Female; Humans; Hyperamm	2007
Neurological implications of urea cycle disorders. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:6 Topics: Ammonia; Brain; Cognition; Enzymes; Female; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male	2007
Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: a study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice. Molecular genetics and metabolism, 2000, Volume: 71, Issue:4 Topics: Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carnitine; Fatty Acids; Gene Expression Regulation,	2000
Consensus statement from a conference for the management of patients with urea cycle disorders. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Child; Dietary Proteins; Humans; Hyperammonemia; Urea	2001
Proceedings of a consensus conference for the management of patients with urea cycle disorders. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Hyperammonemia; Infant, Newbo	2001
Laboratory evaluation of urea cycle disorders. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Citrulline; DNA Mutational Analysis; Humans; Hyper	2001
Alternative pathway therapy for urea cycle disorders: twenty years later. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Humans; Hyperammonemia; Phenylacetates; Phe	2001
Urea cycle disorders. Clinics in liver disease, 2000, Volume: 4, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Genetic Therapy; Humans; Hyperammonemia; Infant; Infant, Newbo	2000
Hyperammonemia in urea cycle disorders: role of the nephrologist. American journal of kidney diseases : the official journal of the National Kidney Foundation, 2001, Volume: 37, Issue:5 Topics: Algorithms; Ammonia; Brain Diseases, Metabolic; Child, Preschool; Coma; Developmental Disabilities;	2001
Ornithine aminotransferase, a potential target for the treatment of hyperammonemias. Current drug targets, 2000, Volume: 1, Issue:2 Topics: Ammonia; Animals; Biogenic Polyamines; Brain; Chorioretinitis; Enzyme Inhibitors; Humans; Hyperammon	2000
Glutamate transporter and receptor function in disorders of ammonia metabolism. Mental retardation and developmental disabilities research reviews, 2001, Volume: 7, Issue:4 Topics: Adenosine Triphosphate; Amino Acid Transport System X-AG; Ammonia; Apoptosis; Astrocytes; Binding Si	2001
Disorders of glutamate metabolism. Mental retardation and developmental disabilities research reviews, 2001, Volume: 7, Issue:4 Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; ATP-Binding Cassette Transporters; Bacterial Pro	2001

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
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:1 Topics: Ammonia; Biomarkers; Cell Transplantation; Europe; Female; Humans; Hyperammonemia; Infant; Infant, N	2018
Randomized, double-blind, controlled study of glycerol phenylbutyrate in hepatic encephalopathy. Hepatology (Baltimore, Md.), 2014, Volume: 59, Issue:3 Topics: Adult; Aged; Ammonia; Double-Blind Method; Female; Glutamine; Glycerol; Hepatic Encephalopathy; Huma	2014
Randomized, double-blind, controlled study of glycerol phenylbutyrate in hepatic encephalopathy. Hepatology (Baltimore, Md.), 2014, Volume: 59, Issue:3 Topics: Adult; Aged; Ammonia; Double-Blind Method; Female; Glutamine; Glycerol; Hepatic Encephalopathy; Huma	2014
Randomized, double-blind, controlled study of glycerol phenylbutyrate in hepatic encephalopathy. Hepatology (Baltimore, Md.), 2014, Volume: 59, Issue:3 Topics: Adult; Aged; Ammonia; Double-Blind Method; Female; Glutamine; Glycerol; Hepatic Encephalopathy; Huma	2014
Randomized, double-blind, controlled study of glycerol phenylbutyrate in hepatic encephalopathy. Hepatology (Baltimore, Md.), 2014, Volume: 59, Issue:3 Topics: Adult; Aged; Ammonia; Double-Blind Method; Female; Glutamine; Glycerol; Hepatic Encephalopathy; Huma	2014
Keto analogue and amino acid supplementation affects the ammonaemia response during exercise under ketogenic conditions. The British journal of nutrition, 2011, Jun-28, Volume: 105, Issue:12 Topics: Adult; Amino Acids; Analysis of Variance; Area Under Curve; Athletes; Blood Glucose; Case-Control St	2011
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency. European journal of pediatrics, 2006, Volume: 165, Issue:9 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. 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

Article	Year
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. Molecular genetics and metabolism, 2022, Volume: 135, Issue:1 Topics: Humans; Hyperammonemia; Nitrogen; Phenylbutyrates; Surveys and Questionnaires; Urea; Urea Cycle Diso	2022
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3 Topics: Ammonia; Animals; Disease Models, Animal; Glutaminase; Glutamine; Humans; Hyperammonemia; Liver; Mic	2022
Ammonia Clearance with Different Continuous Renal Replacement Therapy Techniques in Patients with Liver Failure. Blood purification, 2022, Volume: 51, Issue:10 Topics: Acute Kidney Injury; Adult; Ammonia; Continuous Renal Replacement Therapy; Creatinine; Humans; Hyper	2022
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology. Amino acids, 2022, Volume: 54, Issue:5 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Glutamine; Humans; Hyperammonem	2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:4 Topics: Adolescent; Adult; Age of Onset; Alleles; Humans; Hyperammonemia; Male; Ornithine Carbamoyltransfera	2022
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. Nature communications, 2022, 09-05, Volume: 13, Issue:1 Topics: Acetylglucosamine; Ammonia; Animals; Biocatalysis; Carbamoyl-Phosphate Synthase (Ammonia); Disease M	2022
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency. Human molecular genetics, 2023, 05-18, Volume: 32, Issue:11 Topics: Aspartic Acid; Citrullinemia; Fatty Acids; Glycolysis; Hepatocytes; Humans; Hyperammonemia; Malates;	2023
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders. Molecular genetics and metabolism, 2023, Volume: 138, Issue:4 Topics: Humans; Hyperammonemia; Nitrogen; Phenylbutyrates; Powders; Rare Diseases; Taste; Urea; Urea Cycle D	2023
Feline hyperammonemia associated with functional cobalamin deficiency: A case report. The Canadian veterinary journal = La revue veterinaire canadienne, 2023, Volume: 64, Issue:5 Topics: Amino Acids; Ammonia; Animals; Cat Diseases; Cats; Female; Hyperammonemia; Methylmalonic Acid; Urea;	2023
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. Proceedings of the National Academy of Sciences of the United States of America, 2019, 10-15, Volume: 116, Issue:42 Topics: Ammonia; Animals; Arginase; Arginine; Codon; Disease Models, Animal; Glutamine; Hyperammonemia; Hype	2019
[Reduced consciousness levels caused by hyperammonaemia]. Nederlands tijdschrift voor geneeskunde, 2019, 10-10, Volume: 163 Topics: Adult; Consciousness; Female; Humans; Hyperammonemia; Urea; Urinary Tract Infections	2019
5-Fluorouracil-induced hyperammonaemic encephalopathy: A French national survey. European journal of cancer (Oxford, England : 1990), 2020, Volume: 129 Topics: Aged; Ammonia; Antimetabolites, Antineoplastic; Brain Diseases; Citric Acid Cycle; Dose-Response Rel	2020
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency. Clinical biochemistry, 2020, Volume: 84 Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hype	2020
A retrospective study of adult patients with noncirrhotic hyperammonemia. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6 Topics: Adult; Age of Onset; Aged; Ammonia; Female; Humans; Hyperammonemia; Male; Middle Aged; Retrospective	2020
Potassium deficiency decreases the capacity for urea synthesis and markedly increases ammonia in rats. American journal of physiology. Gastrointestinal and liver physiology, 2021, 04-01, Volume: 320, Issue:4 Topics: Ammonia; Animals; Disease Models, Animal; Female; Gene Expression Regulation, Enzymologic; Hyperammo	2021
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase. Scientific reports, 2021, 02-11, Volume: 11, Issue:1 Topics: Amino-Acid N-Acetyltransferase; Animals; Arginine; Citrulline; Dependovirus; Disease Models, Animal;	2021
Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect. BMJ case reports, 2021, May-31, Volume: 14, Issue:5 Topics: Adult; Child; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Status Epil	2021
Urea cycle pathway targeted therapeutic action of naringin against ammonium chloride induced hyperammonemic rats. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2017, Volume: 94 Topics: Ammonium Chloride; Animals; Biomarkers; Down-Regulation; Flavanones; Flavonoids; Hyperammonemia; Inf	2017
[Hyperammonemic encephalopathy due to urinary tract infection by urea splitting bacteria. A pediatric case report]. Archivos argentinos de pediatria, 2017, Dec-01, Volume: 115, Issue:6 Topics: Brain Diseases, Metabolic; Child, Preschool; Corynebacterium Infections; Humans; Hyperammonemia; Mal	2017
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis. World journal of gastroenterology, 2017, Nov-28, Volume: 23, Issue:44 Topics: Ammonia; Central Nervous System; Citrullinemia; Enterobacter; Fatal Outcome; Hepatocytes; Humans; Hy	2017
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. Proceedings of the National Academy of Sciences of the United States of America, 2018, 01-09, Volume: 115, Issue:2 Topics: Ammonia; Animals; Autophagy; Humans; Hyperammonemia; Liver; Male; Mechanistic Target of Rapamycin Co	2018
Prenatal treatment of ornithine transcarbamylase deficiency. Molecular genetics and metabolism, 2018, Volume: 123, Issue:3 Topics: Ammonia; Drug Combinations; Female; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutati	2018
Targeting autophagy for therapy of hyperammonemia. Autophagy, 2018, Volume: 14, Issue:7 Topics: Ammonia; Autophagy; Humans; Hyperammonemia; Liver; Urea	2018
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. Molecular genetics and metabolism, 2018, Volume: 125, Issue:3 Topics: Animals; Argininosuccinate Lyase; Argininosuccinic Aciduria; Dependovirus; Disease Models, Animal; G	2018
Taurine transporter (TauT) deficiency impairs ammonia detoxification in mouse liver. Proceedings of the National Academy of Sciences of the United States of America, 2019, 03-26, Volume: 116, Issue:13 Topics: Ammonia; Animals; Deficiency Diseases; Disease Models, Animal; GABA Plasma Membrane Transport Protei	2019
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model. Scientific reports, 2019, 03-12, Volume: 9, Issue:1 Topics: Amino Acids; Ammonia; Ammonium Chloride; Animals; Aspartic Acid; Citrulline; Citrullinemia; Disease	2019
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias. Klinische Padiatrie, 2019, Volume: 231, Issue:2 Topics: Humans; Hyperammonemia; Hypothermia, Induced; Hypoxia-Ischemia, Brain; Infant, Newborn; Treatment Ou	2019
Ethanol sensitizes skeletal muscle to ammonia-induced molecular perturbations. The Journal of biological chemistry, 2019, 05-03, Volume: 294, Issue:18 Topics: Ammonia; Animals; Cell Line; Ethanol; Hepatocytes; Humans; Hyperammonemia; Membrane Transport Protei	2019
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle. Cancer medicine, 2019, Volume: 8, Issue:5 Topics: Aged; Antimetabolites, Antineoplastic; Capecitabine; Female; Humans; Hyperammonemia; Stomach Neoplas	2019
Ammonia clearance with haemofiltration in adults with liver disease. Liver international : official journal of the International Association for the Study of the Liver, 2014, Volume: 34, Issue:1 Topics: Adult; Ammonia; Female; Hemodiafiltration; Humans; Hyperammonemia; Liver Failure; Male; Middle Aged;	2014
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. Molecular genetics and metabolism, 2013, Volume: 109, Issue:4 Topics: Adolescent; Child; Child, Preschool; Developmental Disabilities; Humans; Hyperammonemia; Hypothermia	2013
Pannexin1 as a novel cerebral target in pathogenesis of hepatic encephalopathy. Metabolic brain disease, 2014, Volume: 29, Issue:4 Topics: Ammonia; Brain; Connexins; Energy Metabolism; Glutamic Acid; Heart Arrest; Hepatic Encephalopathy; H	2014
The urea cycle disorders. Seminars in neurology, 2014, Volume: 34, Issue:3 Topics: Brain; Diagnosis, Differential; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Di	2014
Chronotherapeutic effect of fisetin on expression of urea cycle enzymes and inflammatory markers in hyperammonaemic rats. Pharmacological reports : PR, 2014, Volume: 66, Issue:6 Topics: Ammonium Chloride; Animals; Antioxidants; Biomarkers; Blotting, Western; Brain; Drug Chronotherapy;	2014
Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBac transposase gene delivery system. Hepatology (Baltimore, Md.), 2015, Volume: 62, Issue:2 Topics: Adenoviridae; Animals; Animals, Newborn; Disease Models, Animal; Gene Transfer Techniques; Genetic T	2015
Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report. Journal of medical case reports, 2015, Nov-23, Volume: 9 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. Molecular genetics and metabolism, 2016, Volume: 117, Issue:1 Topics: Administration, Oral; Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Humans; H	2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of inherited metabolic disease, 2016, Volume: 39, Issue:5 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Argininosuccinate Synthase; Ch	2016
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder. The American journal of emergency medicine, 2016, Volume: 34, Issue:9 Topics: Ammonia; Coma; Female; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Po	2016
Chrysin, a flavonoid attenuates histological changes of hyperammonemic rats: A dose dependent study. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2016, Volume: 82 Topics: Ammonia; Animals; Bilirubin; Biomarkers; Body Weight; Brain; Creatinine; Dose-Response Relationship,	2016
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. Prescrire international, 2008, Volume: 17, Issue:94 Topics: Adolescent; Amino-Acid N-Acetyltransferase; Child; Child, Preschool; Clinical Trials as Topic; Europ	2008
[A newborn infant with hyperventilation]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2008, Jun-26, Volume: 128, Issue:13 Topics: Alkalosis, Respiratory; Diagnosis, Differential; Fatal Outcome; Humans; Hyperammonemia; Infant, Newb	2008
[Metabolic inborn error with acute debut in newborns]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2008, Jun-26, Volume: 128, Issue:13 Topics: Diagnosis, Differential; Emergencies; Humans; Hyperammonemia; Infant, Newborn; Metabolism, Inborn Er	2008
Hereditary urea cycle diseases in Finland. Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:10 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. Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:10 Topics: Acute Disease; Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschoo	2008
Morin a flavonoid exerts antioxidant potential in chronic hyperammonemic rats: a biochemical and histopathological study. Molecular and cellular biochemistry, 2009, Volume: 327, Issue:1-2 Topics: Ammonia; Animals; Antioxidants; Brain; Flavonoids; Hyperammonemia; Lipid Peroxidation; Liver; Male;	2009
An 18-year-old woman with hyperammonemia. Chest, 2009, Volume: 135, Issue:3 Topics: Adolescent; Brain Diseases, Metabolic; Fatal Outcome; Female; Humans; Hyperammonemia; Metabolism, In	2009
Citrin deficiency and current treatment concepts. Molecular genetics and metabolism, 2010, Volume: 100 Suppl 1 Topics: Animals; Calcium-Binding Proteins; Carbohydrates; Deficiency Diseases; Disease Models, Animal; Food	2010
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency. Annals of clinical biochemistry, 2010, Volume: 47, Issue:Pt 3 Topics: Adult; Fatal Outcome; Humans; Hyperammonemia; Male; Ornithine Carbamoyltransferase Deficiency Diseas	2010
Cyclophosphamide-induced leakage of gastrointestinal ammonia into the common bloodstream in rats. Drug and chemical toxicology, 2011, Volume: 34, Issue:1 Topics: Ammonia; Animals; Antineoplastic Agents, Alkylating; Behavior, Animal; Cyclophosphamide; Dose-Respon	2011
Hyperammonemia in the pediatric emergency care setting. Pediatric emergency care, 2010, Volume: 26, Issue:12 Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Consciousness Disorders; Critical Illness;	2010
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA. Journal of hepatology, 2011, Volume: 55, Issue:2 Topics: Acyl Coenzyme A; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Anticonvulsants; Citrulline; Dise	2011
Ammonia redistribution from the gastrointestinal tract to general circulation after intraperitoneal injection of cyclophosphamide to rats. Bulletin of experimental biology and medicine, 2010, Volume: 150, Issue:2 Topics: Alanine Transaminase; Ammonia; Animals; Aspartate Aminotransferases; Cyclophosphamide; Dose-Response	2010
Influence of rutin on biochemical alterations in hyperammonemia in rats. Experimental and toxicologic pathology : official journal of the Gesellschaft fur Toxikologische Pathologie, 2012, Volume: 64, Issue:7-8 Topics: Administration, Oral; Ammonia; Animals; Antioxidants; Body Weight; Brain; Disease Models, Animal; Hy	2012
Efficacy of oral L-ornithine L-aspartate in cirrhotic patients with hyperammonemic hepatic encephalopathy. Annals of hepatology, 2011, Volume: 10 Suppl 2 Topics: Administration, Oral; Ammonia; Dipeptides; Glutamine; Hepatic Encephalopathy; Humans; Hyperammonemia	2011
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Clinical biochemistry, 2012, Volume: 45, Issue:18 Topics: Adolescent; Ammonia; Child; Hospitalization; Humans; Hyperammonemia; Hyperargininemia; Male; Recurre	2012
Aggravation of cyclophosphamide-induced acute neurological disorders under conditions of artificial acidification of chyme in rats. Bulletin of experimental biology and medicine, 2012, Volume: 153, Issue:6 Topics: Acute Disease; Administration, Oral; Ammonia; Animals; Boric Acids; Cyclophosphamide; Gastric Juice;	2012
Effects of ornithine alpha-ketoglutarate on circulatory antioxidants and lipid peroxidation products in ammonium acetate treated rats. Annals of nutrition & metabolism, 2002, Volume: 46, Issue:3-4 Topics: Acetates; Analysis of Variance; Animals; Antioxidants; Ascorbic Acid; Hyperammonemia; Lipid Peroxida	2002
Effects of alpha-ketoglutarate on antioxidants and lipid peroxidation products in rats treated with ammonium acetate. Nutrition (Burbank, Los Angeles County, Calif.), 2002, Volume: 18, Issue:9 Topics: Acetates; Animals; Antioxidants; Body Weight; Hyperammonemia; Ketoglutaric Acids; Kidney; Lipid Pero	2002
[Fulminant coma: think hyperammonemia and urea cycle disorders]. Annales francaises d'anesthesie et de reanimation, 2002, Volume: 21, Issue:10 Topics: Adolescent; Ammonia; Coma; Family; Fatal Outcome; Humans; Hyperammonemia; Male; Ornithine Carbamoylt	2002
A mouse model of argininosuccinic aciduria: biochemical characterization. Molecular genetics and metabolism, 2003, Volume: 78, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Arginino	2003
Hyperammonemia in carnitine-deficient adult JVS mice used by starvation. Metabolic brain disease, 2002, Volume: 17, Issue:4 Topics: Aging; Amino Acids; Ammonia; Animals; Animals, Newborn; Carbamoyl-Phosphate Synthase (Ammonia); Carn	2002
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Pediatrics, 2003, Volume: 111, Issue:6 Pt 1 Topics: Adult; Crigler-Najjar Syndrome; Female; Genetic Carrier Screening; Hepatocytes; Humans; Hyperammonem	2003
A vulnerable and rate-limiting step in urea synthesis in patients with hyperammoniaemia. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1958, Volume: 97, Issue:2 Topics: Amino Acids; Ammonia; Humans; Hyperammonemia; Urea	1958
Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet (London, England), 1962, Oct-06, Volume: 2, Issue:7258 Topics: Amino Acids; Ammonia; Hyperammonemia; Transferases; Urea	1962
[Anesthetic considerations in a woman with congenital hyperammonemia]. Revista espanola de anestesiologia y reanimacion, 2002, Volume: 49, Issue:4 Topics: Adult; Anesthesia, General; Epilepsy; Fasting; Female; Humans; Hyperammonemia; Intellectual Disabili	2002
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. European journal of pediatrics, 2003, Volume: 162 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrullin	2003
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. Human mutation, 2005, Volume: 25, Issue:3 Topics: Adult; Age of Onset; Alleles; Amino Acid Sequence; Amino Acid Substitution; Amino-Acid N-Acetyltrans	2005
[Clinical and laboratory screening studies on urea cycle defects]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2005, Volume: 43, Issue:5 Topics: Adolescent; Ammonia; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Hyperammonemia; Inf	2005
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. Journal of hepatology, 2006, Volume: 44, Issue:5 Topics: Amino Acids; Ammonia; Animals; Anticoagulants; Aspartic Acid; Calcium-Binding Proteins; Citric Acid;	2006
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice. The Journal of nutrition, 2006, Volume: 136, Issue:7 Topics: Amino Acids; Animals; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase; Or	2006
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. European journal of pediatrics, 2008, Volume: 167, Issue:3 Topics: Adrenergic beta-Antagonists; Cesarean Section; Glucose; Humans; Hyperammonemia; Infant, Newborn; Ins	2008
Alternative-pathway therapy for hyperammonemia. The New England journal of medicine, 2007, May-31, Volume: 356, Issue:22 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hyperammonemia; Phenylacetates; Sodium Benzoate; Urea	2007
In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model. Human molecular genetics, 2007, Sep-15, Volume: 16, Issue:18 Topics: Alleles; Amino Acid Substitution; Animals; Cell Line; Genetic Diseases, X-Linked; Humans; Hyperammon	2007
Urea-splitting urinary tract infection contributing to hyperammonemic encephalopathy. Nature clinical practice. Urology, 2007, Volume: 4, Issue:8 Topics: Adult; Brain Diseases; Diagnosis, Differential; Female; Humans; Hyperammonemia; Urea; Urinary Tract	2007
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatric nephrology (Berlin, Germany), 2008, Volume: 23, Issue:1 Topics: Ammonia; Female; Humans; Hyperammonemia; Infant, Newborn; Male; Metabolism, Inborn Errors; Peritonea	2008
Presentation of an acquired urea cycle disorder post liver transplantation. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2007, Volume: 13, Issue:12 Topics: Fatal Outcome; Female; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver; Liver Cirrhosis; Liver	2007
Fatal initial adult-onset presentation of urea cycle defect. Archives of neurology, 2007, Volume: 64, Issue:12 Topics: Adult; Brain Edema; DNA; Fatal Outcome; Female; Heterozygote; Humans; Hyperammonemia; Infant, Newbor	2007
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. Journal of clinical gastroenterology, 2008, Volume: 42, Issue:2 Topics: Diagnosis, Differential; Glucocorticoids; Hepatic Encephalopathy; Humans; Hyperammonemia; Male; Meta	2008
Current strategies for the management of neonatal urea cycle disorders. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Antimetabolites, Antineoplastic; Arginine; Dialysi	2001
Long-term management of patients with urea cycle disorders. The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline;	2001
The molecular basis of ornithine transcarbamylase deficiency. European journal of pediatrics, 2000, Volume: 159 Suppl 3 Topics: Adolescent; Adult; Child; Child, Preschool; Female; Genetic Linkage; Humans; Hyperammonemia; Infant;	2000
A risk factor for chronic mild hyperammonaemia. European journal of pediatrics, 2002, Volume: 161, Issue:4 Topics: Child; Chronic Disease; Humans; Hyperammonemia; Intellectual Disability; Risk Factors; Urea	2002
Deepening coma in an epileptic patient: the missing link to the urea cycle. Hyperammonaemic metabolic encephalopathy. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2002, Volume: 17, Issue:7 Topics: Anticonvulsants; Atrophy; Cerebellum; Coma; Epilepsy; Female; Humans; Hyperammonemia; Middle Aged; T	2002

urea and Hyperammonemia