| H01283 | |
| H番号 | H01283 |
| 名称 | マロニル-CoA脱炭酸酵素欠損症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | MLYCD [HSA:23417] [KO:K01578] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.E1 ICD-10: E72.8 MeSH: C535702 OMIM: 248360 |
| 文献 | PMID:10417274 著者 FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J タイトル The molecular basis of malonyl-CoA decarboxylase deficiency. 雑誌 Am J Hum Genet 65:318-26 (1999) DOI:10.1086/302492 PMID:11550227 著者 Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R タイトル Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. 雑誌 J Neurosci Res 65:591-4 (2001) DOI:10.1002/jnr.1189 |