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.
On this page
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