(Q56013922)

English

intermediate maple syrup urine disease

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

  • Intermediate BCKD deficiency
  • Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
  • Intermediate MSUD

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