maple syrup urine disease type 1B
A maple syrup urine disease caused by mutations in BCKDHB.
MONDO:0009563
maple syrup urine disease
is_a
MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
related
MSUD type 3 (formerly)
related
MSUD type IB
related
maple syrup urine disease type 1B
exact