It was reported that homozygous or compound heterozygous mutations in BCKDHA would result in maple syrup urine disease (MSUD)18–20 which is supposed to be an autosomal recessive disease while the variant in the present case is a heterozygous mutation in BCKDHA, and also, the clinical symptoms of this case were not consistent with MSUD. Here, BCKDHA is linked to maple syrup urine disease.