| H01262 | |
| H number | H01262 |
| Name | Formiminotransferase deficiency |
| Description | Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype include megaloblastic anemia and mental retardation. Features of a mild phenotype include mild developmental delay and no hematological abnormalities. |
| Category | Inherited metabolic disorder |
| Network | nt06037(H01262) Histidine metabolism |
| Gene | FTCD [HSA:10841] [KO:K13990] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A02.Y 5C63.1 ICD-10: E70.8 MeSH: C537425 OMIM: 229100 |
| Reference | PMID:12815595 AUTHORS Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS TITLE The molecular basis of glutamate formiminotransferase deficiency. JOURNAL Hum Mutat 22:67-73 (2003) DOI:10.1002/humu.10236 |