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Human mutations affecting branched chain alpha-ketoacid dehydrogenase.

Frontiers in bioscience : a journal and virtual library - 3 Jun 1998

Danner D J, Doering C B

Abstract excerpt

Maple syrup urine disease results from defective function of the branched chain alpha-ketoacid dehydrogenase complex [BCKD] within the matrix of the mitochondria. This disorder in humans is inherited as an autosomal recessive trait with an incidence of 1 in 150,000 live-births in the general population and 1/176 for the Mennonite population. Over 50 different causal mutations are known to exist scattered among...

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PMID: 9609836
DOI: 10.2741/a299

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Human mutations affecting branched chain alpha-ketoacid dehydrogenase.PMID 9609836Read ↗

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Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.Semantic proximity Read ↗

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.Semantic proximity Read ↗

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