H01233 | |
H number | H01233 |
Name | Urocanase deficiency; Urocanic aciduria |
Description | Urocanase deficiency is an autosomal recessive disorder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of urocanase of the liver. Patients sometimes display ataxia. |
Category | Inherited metabolic disorder |
Network | nt06037(H01233) Histidine metabolism |
Gene | UROC1 [HSA:131669] [KO:K01712] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.21 ICD-10: E70.8 MeSH: C536479 OMIM: 276880 |
Reference | PMID:19304569 AUTHORS Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R TITLE Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. JOURNAL J Med Genet 46:407-11 (2009) DOI:10.1136/jmg.2008.060632 PMID:5124677 AUTHORS Yoshida T, Tada K, Honda Y, Arakawa T TITLE Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. JOURNAL Tohoku J Exp Med 104:305-12 (1971) DOI:10.1620/tjem.104.305 |