Enzyme defect in skin fibroblasts in intermittent branched-chain detonuria and in maple syrup urine disease

Joseph Dancis, Joel Hutzler, Rody P. Cox

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

The enzyme defect in maple syrup urine disease and in its varient form, intermittent branched-chain ketonuria, is demonstrable in skin fibroblast cultures derived from patients with this disease. In both instances there is considerable reduction in the ability to decarboxylate all three branched-chain keto acids. In view of the recent evidence that there are two or three branched-chain decarboxylases, each with a specific substrate, it is suggested that one gene controls the synthesis of a polypeptide that is common to the involved enzymes or to some structural or regulatory part of the enzyme complex.

Original languageEnglish (US)
Pages (from-to)407-411
Number of pages5
JournalBiochemical Medicine
Volume2
Issue number5
StatePublished - Apr 1969

Fingerprint

Maple Syrup Urine Disease
Fibroblasts
Skin
Defects
Enzymes
Keto Acids
Ketosis
Carboxy-Lyases
Cell culture
Genes
Peptides
Substrates

ASJC Scopus subject areas

  • Biochemistry

Cite this

Enzyme defect in skin fibroblasts in intermittent branched-chain detonuria and in maple syrup urine disease. / Dancis, Joseph; Hutzler, Joel; Cox, Rody P.

In: Biochemical Medicine, Vol. 2, No. 5, 04.1969, p. 407-411.

Research output: Contribution to journalArticle

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