| Malonic aciduria (disorder) | | Malonic aciduria | | A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. | | malonacidurie |
| | Id | 361203007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | E71.3 | | Rule | TRUE | | Advice | ALWAYS E71.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
