Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: Branched-chain ketoacid dehydrogenase, isovaleryl-coa dehydrogenase, 3-methylcrotonyl- coa carboxylase, 3-methylglutaconyl-coa hydratase, and 3-hydroxy-3-methylglutaryl-coa lyase

Ichiro Yoshida, Oddmund Søvik, Lawrence Sweetman, William L. Nyhan

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

The metabolism of leucine was studied in cultured human fibroblasts derived from patients with defects in each of the major steps in the catabolism of the amino acid. Intact fibroblasts were incubated with [U-14Clleucine and the organic acid products were isolated by liquid partition chromatography. In control fibroblasts the major product of leucine was 3-hydroxyisovaleric acid. This was also the case for fibroblasts with deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase, 3-methylcrotonyl-CoA carboxylase and 3-methyl-glutaconyl-CoA hydratase. There was little or no accumulation of the compound with fibroblasts from patients with maple syrup urine disease and isovaleric acidemia.

Original languageEnglish (US)
Pages (from-to)413-424
Number of pages12
JournalJournal of Neurogenetics
Volume2
Issue number6
DOIs
StatePublished - 1985
Externally publishedYes

Keywords

  • 3-hydroxy-3-methylglutaric aciduria
  • 3-methylcrotonyl-CoA carboxylase deficiency
  • 3-methylglutaconic aciduria
  • Branched-chain ketoaciduria
  • Isovaleric academia
  • Leucine metabolism

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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