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Maple Syrup Urine Disease

Prevalence: 1/185000

metabolic

Official·OMIM:248600 Official·ORPHA268145

Branched-chain amino acid metabolism disorder due to BCKDHA/BCKDHB gene mutations.

Associated Genes

BCKDHABranched Chain Keto Acid Dehydrogenase E1 Subunit Alpha

Chromosome 19Autosomal Recessive