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
作者:
YoshidaIchiro,
SøvikOddmund,
SweetmanLawrence,
NyhanWilliam L.,
期刊:
Journal of Neurogenetics
(Taylor Available online 1985)
卷期:
Volume 2,
issue 6
页码: 413-424
ISSN:0167-7063
年代: 1985
DOI:10.3109/01677068509101427
出版商: Taylor&Francis
关键词: leucine metabolism;branched-chain ketoaciduria;isovaleric academia;3-methylcrotonyl-CoA carboxylase deficiency;3-methylglutaconic aciduria;3-hydroxy-3-methylglutaric aciduria
数据来源: Taylor
摘要:
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.
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