Metabolic studies on normal and pyruvate dehydrogenase deficient cultured human fibroblasts.
Secondary metabolic derangements may occur in cultured fibroblasts with a defined enzyme deficiency. The metabolism of cells deficient of pyruvate dehydrogenase (5% of normal) has been studied using radioactive labelled substrates. Compared to normal control cells the activity of glycolysis was 149% (P less than 0.001), pentose phosphate shunt 144% (P less than 0.01), citric acid cycle 80% (P less than 0.002), and oxidation of acetate was 30% (P less than 0.01). The oxidation of palmitate and octanoate were not significantly different from that of control cells. Metabolic studies on fibroblasts may serve as a useful screening procedure for the detection of enzyme defects, but the results should be cautiously interpreted with respect to the localization of the primary defect.
D000138:Acidosis / Q000151:congenital / Q000378:metabolism*; D002952:Citric Acid Cycle; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006019:Glycolysis; D006801:Humans; D007773:Lactates / Q000378:metabolism*; D010428:Pentosephosphates / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease
D005227:Fatty Acids; D007773:Lactates; D010428:Pentosephosphates