" /> Maple syrup urine disease - CISMeF





Preferred Label : Maple syrup urine disease;

LOINC status : ACTIVE;

Synonyme UMLS : Branched-chain alpha-keto acid dehydrogenase deficiency; Branched chain ketoacid dehydrogenase deficiency; BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency; Maple syrup urine disease, NOS; Oxo-acid decarboxylase deficiency; MSUD - Maple syrup urine disease; Branched chain ketoaciduria; Ketoacidemia; BCKD deficiency; Ketoacid decarboxylase deficiency; MSUD; maple syrup disease; Leucinosis;

UMLS MTHU# : MTHU021578;

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30/07/2025


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