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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Maple syrup urine disease


Other Names for this Disease
  • BCKD deficiency
  • Branched chain ketoaciduria
  • Branched-chain alpha-keto acid dehydrogenase deficiency
  • Keto acid decarboxylase deficiency
  • MSUD
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Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • I recently began having a maple syrup smell. Is it possible for an adult to develop maple syrup urine disease? How can I get tested? Click here for answer

  • My brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk? Click here for answer