Inherited Lactic AcidosisCorrection of the Defect in Cultured Fibroblasts
作者:
PAUL GOODYER,
GERALD LANCASTER,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 11
页码: 1144-1147
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
ABSTRACT.We report a case of familial lactic acidosis, lethal in the newborn period. Studies in intact fibroblasts identified a defect in the oxidative pathway of pyruvate metabolism. Although assay of pyruvate dehydrogenase on cell sonicates was not appreciably reduced, flux through the enzyme and other mitochondrial multienzyme dehydrogenases was severely impaired in intact cells. Deficient lactate conversion to carbon dioxide could be repaired by the addition to the incubation medium of electron acceptors such as methylene blue (25 μg/ml) or dichlorophenolindo-phenol (25 μg/ml).
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