| Entry | |
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| Name | Maple syrup urine disease |
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| Subgroup | Dihydrolipoamide dehydrogenase deficiency (DLDD) [DS:H02000] |
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| 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. |
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| Category | Inherited metabolic disorder |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 05 Endocrine, nutritional or metabolic diseases Metabolic disorders Inborn errors of metabolism 5C50 Inborn errors of amino acid or other organic acid metabolism H00172 Maple syrup urine disease Pathway-based classification of diseases [BR:br08402] Amino acid metabolism nt06024 Valine, leucine and isoleucine degradation H00172 Maple syrup urine disease BRITE hierarchy |
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| Pathway | | hsa00280 | Valine, leucine and isoleucine degradation |
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| Network | nt06024 Valine, leucine and isoleucine degradation |
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| Gene | (MSUD1A) BCKDHA [HSA:593] [KO:K00166] (MSUD1B) BCKDHB [HSA:594] [KO:K00167] (MSUD2) DBT [HSA:1629] [KO:K09699] (DLDD) DLD [HSA:1738] [KO:K00382] (MSUDMV) PPM1K [HSA:152926] [KO:K17505] |
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| Other DBs | | OMIM: | 248600 620698 620699 246900 615135 |
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| Reference | PMID:16365091 |
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| Authors | Chuang DT, Chuang JL, Wynn RM |
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| Title | Lessons from genetic disorders of branched-chain amino acid metabolism. |
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| Journal | J Nutr 136:243S-9S (2006)DOI:10.1093/jn/136.1.243S |
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| Reference | PMID:9546032 |
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| Authors | Chuang DT |
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| Title | Maple syrup urine disease: it has come a long way. |
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| Journal | J Pediatr 132:S17-23 (1998)DOI:10.1016/S0022-3476(98)70523-2 |
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| Reference | PMID:9266218 |
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| Authors | Schadewaldt P, Wendel U |
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| Title | Metabolism of branched-chain amino acids in maple syrup urine disease. |
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| Journal | Eur J Pediatr 156 Suppl 1:S62-6 (1997)DOI:10.1007/PL00014274 |
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| Reference | PMID:2703538 (MSUD1A) |
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| Authors | Zhang B, Edenberg HJ, Crabb DW, Harris RA |
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| Title | Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. |
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| Journal | J Clin Invest 83:1425-9 (1989)DOI:10.1172/JCI114033 |
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| Reference | PMID:2022752 (MSUD1B) |
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| Authors | Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I |
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| Title | Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. |
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| Journal | J Clin Invest 87:1862-6 (1991)DOI:10.1172/JCI115209 |
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| Reference | PMID:1990841 (MSUD2) |
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| Authors | Herring WJ, Litwer S, Weber JL, Danner DJ |
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| Title | Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. |
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| Journal | Am J Hum Genet 48:342-50 (1991) |
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| Reference | PMID:8506365 (DLD) |
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| Authors | Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS |
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| Title | Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. |
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| Journal | Proc Natl Acad Sci U S A 90:5186-90 (1993)DOI:10.1073/pnas.90.11.5186 |
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| Reference | PMID:23086801 (MSUDMV) |
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| Authors | Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P |
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| 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. |
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| Journal | Hum Mutat 34:355-62 (2013)DOI:10.1002/humu.22242 |
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