| H00187 | |
| H number | H00187 |
| Name | Ornithine transcarbamylase deficiency |
| Description | Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation. |
| Category | Inherited metabolic disorder |
| Network | nt06010(H00187) Urea cycle |
| Gene | OTC [HSA:5009] [KO:K00611] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium phenylbutyrate [DR:D05868] |
| Comment | - |
| Other DBs | ICD-11: 5C50.9 5C50.AY ICD-10: E72.4 MeSH: D020163 OMIM: 311250 |
| Reference | PMID:18038189 AUTHORS Gropman AL, Summar M, Leonard JV TITLE Neurological implications of urea cycle disorders. JOURNAL J Inherit Metab Dis 30:865-79 (2007) DOI:10.1007/s10545-007-0709-5 PMID:12788037 AUTHORS Gordon N TITLE Ornithine transcarbamylase deficiency: a urea cycle defect. JOURNAL Eur J Paediatr Neurol 7:115-21 (2003) DOI:10.1016/S1090-3798(03)00040-0 PMID:10885542 AUTHORS Butterworth RF TITLE Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency. JOURNAL Metab Brain Dis 15:83-91 (2000) DOI:10.1023/A:1011165819480 |