is msud a mutation
Maple syrup urine disease caused by mutation in the E1-alpha subunit gene is referred to as MSUD type IA; that caused by a mutation in the E1-beta subunit gene as type IB; and that caused by defect in the E2 subunit gene as type II. number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA (608348) on chromosome 19q13, BCKDHB (248611) on chromosome 6q14, and DBT (248610) on chromosome 1p21.