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 Scopus citations


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
Issue number5
Publication statusPublished - Apr 1969


ASJC Scopus subject areas

  • Biochemistry

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