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Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline a …
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the …
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD. Sin YY, et al. J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14. J Mol Med (Berl). 2015. PMID: 26467175 Review.
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in …
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to …
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
Camacho J, Rioseco-Camacho N. Camacho J, et al. 2012 May 31 [updated 2025 Apr 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2012 May 31 [updated 2025 Apr 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 22649802 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. ...Preventi …
CLINICAL CHARACTERISTICS: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle an …
Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
Imoto K, Tanaka M, Goya T, Aoyagi T, Takahashi M, Kurokawa M, Tashiro S, Kato M, Kohjima M, Ogawa Y. Imoto K, et al. BMC Gastroenterol. 2022 Mar 28;22(1):144. doi: 10.1186/s12876-022-02213-0. BMC Gastroenterol. 2022. PMID: 35346058 Free PMC article.
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis. ...Among the enzymes associated with the urea cycle, mRNA expressions of carbam …
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by d …
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Mol Genet Metab. 2024 Mar;141(3):108112. doi: 10.1016/j.ymgme.2023.108112. Epub 2023 Dec 10. Mol Genet Metab. 2024. PMID: 38301530 Free PMC article.
OBJECTIVE: Liver transplantation (LTx) is an intervention when medical management is not sufficiently preventing individuals with urea cycle disorders (UCDs) from the occurrence of hyperammonemic events. Supplementation with L-citrulline/arginine is re …
OBJECTIVE: Liver transplantation (LTx) is an intervention when medical management is not sufficiently preventing individuals with …
Control of ureogenesis.
Meijer AJ, Lof C, Ramos IC, Verhoeven AJ. Meijer AJ, et al. Eur J Biochem. 1985 Apr 1;148(1):189-96. doi: 10.1111/j.1432-1033.1985.tb08824.x. Eur J Biochem. 1985. PMID: 3979393 Free article.
Control of urea synthesis was studied in rat hepatocytes incubated with physiological mixtures of amino acids in which arginine was replaced by equimolar amounts of ornithine. ...The relationship between ornithine-cycle flux and the concentratio …
Control of urea synthesis was studied in rat hepatocytes incubated with physiological mixtures of amino acids in which arginine …
Urea cycle dysregulation and arginine pathways in the pathogenesis of NAFLD and NASH (Review).
Zhu B, Wang C, Liu P, Qu Z, Qi R, Chen S, Niu H. Zhu B, et al. Int J Mol Med. 2026 Aug;58(2):215. doi: 10.3892/ijmm.2026.5886. Epub 2026 Jun 11. Int J Mol Med. 2026. PMID: 42272250 Free PMC article. Review.
Recent evidence highlights the central role of urea cycle and arginine metabolism dysregulation in NAFLD/NASH pathogenesis. Downregulation of key urea cycle enzymes, such as carbamoyl phosphate synthetase 1, ornithine transcarbamylase and …
Recent evidence highlights the central role of urea cycle and arginine metabolism dysregulation in NAFLD/NASH pathogene …
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
We also include in this report four personal patients (two with OTC and two with citrullinaemia) who were liver transplanted, and one OTC patient from the National French survey. Although this retrospective series is not really representative of the modern treatment combin …
We also include in this report four personal patients (two with OTC and two with citrullinaemia) who were liver transplanted, and one …
Current Treatment Modalities for Urea Cycle Disorders.
Ah Mew N, Lichter-Konecki U. Ah Mew N, et al. Paediatr Drugs. 2025 Nov;27(6):723-734. doi: 10.1007/s40272-025-00719-0. Epub 2025 Sep 22. Paediatr Drugs. 2025. PMID: 40976841 Review.
The urea cycle, a metabolic pathway comprising six enzymes and two transporters, is necessary for mammalian nitrogen detoxification. A deficiency of any of these components disrupts this process, leading to the accumulation of nitrogen in the form of ammonia, which …
The urea cycle, a metabolic pathway comprising six enzymes and two transporters, is necessary for mammalian nitrogen detoxific …
Hyperammonemia.
Batshaw ML. Batshaw ML. Curr Probl Pediatr. 1984 Nov;14(11):1-69. doi: 10.1016/0045-9380(84)90047-1. Curr Probl Pediatr. 1984. PMID: 6510017
A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is associated with numerous congenital and acquired conditions (Table 11). In some cases, such as urea cycle disorders, ammonia is the principal toxin. In other instances, such as porta …
A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is associated with numerous congenital and acquired conditi …
243 results