| H00172 | |
| H number | H00172 |
| Name | Maple syrup urine disease |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | nt06024(H00172) Valine, leucine and isoleucine degradation |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.D0 ICD-10: E71.0 MeSH: D008375 OMIM: 248600 246900 615135 |
| Reference | PMID:16365091 AUTHORS Chuang DT, Chuang JL, Wynn RM TITLE Lessons from genetic disorders of branched-chain amino acid metabolism. JOURNAL J Nutr 136:243S-9S (2006) DOI:10.1093/jn/136.1.243S PMID:9546032 AUTHORS Chuang DT TITLE Maple syrup urine disease: it has come a long way. JOURNAL J Pediatr 132:S17-23 (1998) DOI:10.1016/S0022-3476(98)70523-2 PMID:9266218 AUTHORS Schadewaldt P, Wendel U TITLE Metabolism of branched-chain amino acids in maple syrup urine disease. JOURNAL Eur J Pediatr 156 Suppl 1:S62-6 (1997) DOI:10.1007/PL00014274 PMID:23086801 AUTHORS Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P TITLE 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. JOURNAL Hum Mutat 34:355-62 (2013) DOI:10.1002/humu.22242 |