Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.

doi:10.1016/s0925-4439(97)00046-x

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Article

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.

Biochimica et biophysica acta - 24 Oct 1997

McConnell B B, Burkholder B, Danner D J

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defective function of the mitochondrial branched chain alpha-ketoacid dehydrogenase (BCKD) complex. Mutations in both alleles of any of three genes for component proteins result in the clinical phenotype. Two discrete m...

Topics

Amino Acid Sequence
Cell Line, Transformed
Heterozygote
Humans
Maple Syrup Urine Disease
Molecular Sequence Data
Mutation
Protein Biosynthesis
Protein Kinases
Sequence Homology, Amino Acid

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