| H01283 | |
| H number | H01283 |
| Name | Malonyl-CoA decarboxylase deficiency |
| Description | Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | MLYCD [HSA:23417] [KO:K01578] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E1 ICD-10: E72.8 MeSH: C535702 OMIM: 248360 |
| Reference | PMID:10417274 AUTHORS FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J TITLE The molecular basis of malonyl-CoA decarboxylase deficiency. JOURNAL Am J Hum Genet 65:318-26 (1999) DOI:10.1086/302492 PMID:11550227 AUTHORS Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R TITLE Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. JOURNAL J Neurosci Res 65:591-4 (2001) DOI:10.1002/jnr.1189 |