Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.
We developed an assay method for pyruvate dehydrogenase phosphatase activity using [1-14C]pyruvate and measured pyruvate dehydrogenase phosphatase activity in cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex. The enzyme activity of their fibroblasts was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. These observations suggest that the defect in activation of the pyruvate dehydrogenase complex in these patients might be due to a reduction in pyruvate dehydrogenase phosphatase activity.
Ito
M
M
Department of Pediatrics, School of Medicine, University of Tokushima, Japan.
Kobashi
H
H
Naito
E
E
Saijo
T
T
Takeda
E
E
Huq
A H
AH
Kuroda
Y
Y
D000140:Acidosis, Lactic / Q000151:congenital / Q000201:enzymology*; D002648:Child; D004789:Enzyme Activation; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D011247:Pregnancy; D011769:Pyruvate Dehydrogenase (Lipoamide)-Phosphatase / Q000378:metabolism*; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid
D011773:Pyruvates; D019289:Pyruvic Acid; D011769:Pyruvate Dehydrogenase (Lipoamide)-Phosphatase