Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

doi:10.1007/BF01800586

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Article

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Journal of inherited metabolic disease - 1 Jan 1991

Hansen L L, Brown G K, Kirby D M, Dahl H H

Abstract excerpt

The human pyruvate dehydrogenase complex catalyses the oxidative decarboxylation of pyruvate to acetyl-CoA. Defects in several of the seven subunits have been reported, but the majority of mutations affect the E1 component and especially the E1 alpha subunit. However, the clinical presentation of...

Topics

Amino Acid Sequence
Base Sequence
DNA
Female
Humans
Immunoblotting
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Pyruvate Dehydrogenase Complex
Pyruvate Dehydrogenase Complex Deficiency Disease
X Chromosome

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