Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Maple syrup urine disease


Other Names for this Disease
  • BCKD deficiency
  • BCKDH deficiency
  • Branched chain ketoaciduria
  • Branched-chain 2-ketoacid dehydrogenase deficiency
  • Branched-chain alpha-keto acid dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

Other Names for this Disease
  • BCKD deficiency
  • BCKDH deficiency
  • Branched chain ketoaciduria
  • Branched-chain 2-ketoacid dehydrogenase deficiency
  • Branched-chain alpha-keto acid dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.