Effect of Lipoic Acid in a Patient with Defective Activity of Pyruvate Dehydrogenase, 2-Oxoglutarate Dehydrogenase, and Branched- Chain Keto Acid Dehydrogenase
作者:
I YOSHIDA,
L SWEETMAN,
S KULOVICH,
W L NYHAN,
B H ROBINSON,
期刊:
Pediatric Research
(OVID Available online 1990)
卷期:
Volume 27,
issue 1
页码: 75-79
ISSN:0031-3998
年代: 1990
出版商: OVID
关键词: PDHC, pyruvate dehydrogenase complex;E1, pyruvate decarboxylase;E2, dihydrolipoyl transacetylase;E3, lipoamide dehydrogenase
数据来源: OVID
摘要:
Lactic acidosis and accumulation of 3-hydroxybutyrate and other citric acid cycle intermediates were found in an infant with a lethal syndrome of metabolic acidosis and renal tubular acidosis. Nevertheless, the patient was relatively well for 4 mo of life. The activity of the pyruvate dehydrogenase complex, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase were all reduced to levels 9 to 29% of control. In contrast, the activity of lipoamide dehydrogenase was normal. The conversion of l-14C-leucine and l-I4C-valine to14CO2and of U-L-14C-valine to its major metabolic product 3-hydroxyisobutyric acid by fibroblasts derived from the patient was less than 5% of control. Cultivation of the patient's fibroblasts in medium enriched with lipoic acid markedly improved these in vitro conversions of leucine and valine.
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