| H00488 | |
| H番号 | H00488 |
| 名称 | MCAD 欠損症; 中鎖アシル CoA デヒドロゲナーゼ欠損症; ACADM 欠損症 |
| 概要 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | nt06020(H00488) beta-Oxidation in mitochondria |
| 病因遺伝子 | ACADM [HSA:34] [KO:K00249] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C536038 OMIM: 201450 |
| 文献 | PMID:9158144 著者 Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N タイトル The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? 雑誌 Hum Mol Genet 6:695-707 (1997) DOI:10.1093/hmg/6.5.695 PMID:23574375 著者 Leal J, Ades AE, Wordsworth S, Dezateux C タイトル Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. 雑誌 Clin Genet 85:253-9 (2014) DOI:10.1111/cge.12157 PMID:15877203 著者 Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA タイトル L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. 雑誌 J Inherit Metab Dis 28:141-52 (2005) DOI:10.1007/s10545-005-5262-5 |