Intermediate maple syrup urine disease

MONDO:0017052

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.

Also known as: Intermediate BCKD deficiency, Intermediate MSUD, Intermediate branched-chain 2-ketoacid dehydrogenase deficiency, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, intermediate maple syrup urine disease

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Maple syrup urine disease (2) Amino acid metabolism disease (1)

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