| H00182 | |
| H number | H00182 |
| Name | Cystathioninuria |
| Description | Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia. |
| Category | Inherited metabolic disorder |
| Network | nt06030(H00182) Methionine metabolism |
| Gene | CTH [HSA:1491] [KO:K01758] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.B ICD-10: E72.1 MeSH: C535408 OMIM: 219500 |
| Reference | PMID:16702350 AUTHORS Finkelstein JD TITLE Inborn errors of sulfur-containing amino acid metabolism. JOURNAL J Nutr 136:1750S-1754S (2006) DOI:10.1093/jn/136.6.1750S PMID:12574942 AUTHORS Wang J, Hegele RA TITLE Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). JOURNAL Hum Genet 112:404-8 (2003) DOI:10.1007/s00439-003-0906-8 |