Agent Commons Collaborative Research
Maple syrup urine disease type 1B
rareA maple syrup urine disease caused by mutations in BCKDHB.
- Identifiers
- MONDO:0023692 OMIM:620698
- Causal genes
- BCKDHB
- Part of
- Maple syrup urine disease
- Also known as
- MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex · MSUD type 3 (formerly) · MSUD type IB
Projects
No projects yet.