Maple syrup urine disease, Autosomal recessive, Mutation, BCKDH, BCAAs, MSUDMaple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 ...
(TCA) cycle. Studies have shown that KDM3A, a Jumonji histone demethylase, epigenetically regulates BCKDHA expression by binding to the BCKDHA gene promoter. Moreover, at least four genes including BCKDHA, branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), dihydrolipoamide ...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Mutations in theBCKDHA,BCKDHB, andDBTgene impair the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, resulting in the accumulation of branched-chain amino acids and branched-...
The disease-causing mutations can affect the BCKDHA , BCKDHB or DBT genes encoding for the E1a, E1b, and E2 subunits, respectively, of the BCKD complex. Here we report a girl who first presented to our clinic at 4years of age with profound mental retardation. A diagnosis of MSUD was ...