| H01348 | |
| H番号 | H01348 |
| 名称 | ミトコンドリアリン酸輸送体欠損症 |
| 概要 | Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia. |
| 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 | - |
| 病因遺伝子 | SLC25A3 [HSA:5250] [KO:K15102] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.30 ICD-10: G71.3 MeSH: C563665 OMIM: 610773 |
| 文献 | PMID:17273968 著者 Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W タイトル Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 雑誌 Am J Hum Genet 80:478-84 (2007) DOI:10.1086/511788 PMID:21763135 著者 Mayr JA, Zimmermann FA, Horvath R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W タイトル Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. 雑誌 Neuromuscul Disord 21:803-8 (2011) DOI:10.1016/j.nmd.2011.06.005 |