| H00172 | |
| H番号 | H00172 |
| 名称 | メープルシロップ尿症 |
| 概要 | Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Currently, there are effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing reduced BCAA contents. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06024(H00172) Valine, leucine and isoleucine degradation |
| 病因遺伝子 | (type Ia) BCKDHA [HSA:593] [KO:K00166] (type Ib) BCKDHB [HSA:594] [KO:K00167] (type II) DBT [HSA:1629] [KO:K09699] (type III) DLD [HSA:1738] [KO:K00382] (mild variant) PPM1K [HSA:152926] [KO:K17505] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | 特殊粉乳 [DR:D08831] |
| コメント | - |
| リンク | ICD-11: 5C50.D0 ICD-10: E71.0 MeSH: D008375 OMIM: 248600 246900 615135 |
| 文献 | PMID:16365091 著者 Chuang DT, Chuang JL, Wynn RM タイトル Lessons from genetic disorders of branched-chain amino acid metabolism. 雑誌 J Nutr 136:243S-9S (2006) DOI:10.1093/jn/136.1.243S PMID:9546032 著者 Chuang DT タイトル Maple syrup urine disease: it has come a long way. 雑誌 J Pediatr 132:S17-23 (1998) DOI:10.1016/S0022-3476(98)70523-2 PMID:9266218 著者 Schadewaldt P, Wendel U タイトル Metabolism of branched-chain amino acids in maple syrup urine disease. 雑誌 Eur J Pediatr 156 Suppl 1:S62-6 (1997) DOI:10.1007/PL00014274 PMID:23086801 著者 Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P タイトル A novel regulatory defect in the branched-chain alpha-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. 雑誌 Hum Mutat 34:355-62 (2013) DOI:10.1002/humu.22242 |