Maple syrup urine disease

Definition

Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct

Also known as BCKD deficiency, BCKDH deficiency, branched chain ketoaciduria, branched-chain 2-ketoacid dehydrogenase deficiency, branched-chain ketoaciduria, Ketoacidaemia, maple syrup urine disease, MSUD — per MONDO

Also identified as

• DOID 9269 per MONDO
• ICD10CM E71.0 per MONDO
• MESH D008375 per MONDO
• NCIT C34806 per MONDO
• Orphanet 511 per MONDO
• SCTID 27718001 per MONDO
• UMLS C0024776 per MONDO