title: Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Tokushima, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: H
authors.initials: H
authors.lastname: Kobashi
authors.forename: E
authors.initials: E
authors.lastname: Naito
authors.forename: T
authors.initials: T
authors.lastname: Saijo
authors.forename: E
authors.initials: E
authors.lastname: Takeda
authors.forename: A H
authors.initials: AH
authors.lastname: Huq
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: 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
chemical_list: D011773:Pyruvates; D019289:Pyruvic Acid; D011769:Pyruvate Dehydrogenase (Lipoamide)-Phosphatase