Maple syrup urine disease
Other Names for this Disease
- Branched chain ketoaciduria
- Branched-chain alpha-keto acid dehydrogenase deficiency
- BCKD deficiency
- Keto acid decarboxylase deficiency
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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