[Gene analysis of maple syrup urine disease (MSUD)].

Article

[Gene analysis of maple syrup urine disease (MSUD)].

Rinsho byori. The Japanese journal of clinical pathology - 1 May 1993

Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I

Abstract excerpt

Maple syrup urine disease (MSUD), an autosomal recessive hereditary metabolic disorder, is due to defective oxidative decarboxylation of the branched-chain alpha-ketoacids (BCKAs) derived from transamination of the three branched-chain amino acids, valine, leucine and isoleucine. The oxidative de...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Genes
Humans
Ketone Oxidoreductases
Maple Syrup Urine Disease
Multienzyme Complexes
Mutation
Polymerase Chain Reaction

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