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 language | English (US) |
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Pages (from-to) | 413-424 |
Number of pages | 12 |
Journal | Journal of Neurogenetics |
Volume | 2 |
Issue number | 6 |
DOIs | |
State | Published - 1985 |
Externally published | Yes |
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