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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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Inheritance

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How is maple syrup urine disease inherited?

Maple syrup urine disease is inherited in an autosomal recessive pattern. This means that both copies of a gene in each cell have mutations. The parents of an individual who has the condition each carry one copy of the mutated gene.
Last updated: 4/21/2014


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