Maple syrup urine disease: branched chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids

J. Dancis, J. Hutzler, R. P. Cox

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Branched-chain keto acid decarboxylase activity in skin fibroblasts from control subjects and from patients with classical and variant forms of maple syrup urine disease (MSUD) was measured with leucine and α-ketoisocaproic acid. When the keto acid was used as substrate in high concentrations (more than 5 mM), the three groups overlapped extensively, even classical cases of MSUD exhibiting decarboxylase activity. With leucine as substrate, decarboxylase activity plateaued at about 1.5 mM, and the three groups could be clearly differentiated. Classical cases of MSUD had minimal or no decarboxylase activity.

Original languageEnglish (US)
Pages (from-to)272-279
Number of pages8
JournalAmerican Journal of Human Genetics
Volume29
Issue number3
StatePublished - Jan 1 1977

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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