BCKDHA/B, DBT AR unreviewed
Maple syrup urine disease
BCAA catabolism
Enzyme or protein defect
Branched-chain alpha-ketoacid dehydrogenase
Accumulates or becomes deficient
Branched-chain alpha-keto acids (esp. leucine)
Key features
Burnt-sugar/maple urine odour, poor feeding, ketoacidosis, encephalopathy
Management
BCAA-restricted diet; thiamine trial
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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