publication . Article . 2003

impaired mitochondrial pyruvate importation in a patient and a fetus at risk

M Brivet;
  • Published: 25 Mar 2003 Journal: Molecular Genetics and Metabolism, volume 78, pages 186-192 (issn: 1096-7192, Copyright policy)
  • Publisher: Elsevier BV
Abstract The patient was the first child of healthy consanguineous parents. She presented at birth with hypotonia, mild facial dysmorphism, periventricular cysts, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate molar ratios, normoglycemia, and normal ammonia. Hyperlactacidemia was severe (5–14 mmol/l) and not corrected with bicarbonate, thiamine (10 mg/d), 2-chloropropionate (100 mg/kg/d) and a ketogenic diet. Pyruvate dehydrogenase (PDHC) activity was normal in lymphocytes and fibroblasts. Functional assays were performed in digitonin-permeabilized fibroblasts to measure oxidation rates from radiolabeled pyruvate and malate. The produc...
free text keywords: Genetics, Biochemistry, Molecular Biology, Endocrinology, Diabetes and Metabolism, Endocrinology, Pyruvate decarboxylation, Internal medicine, medicine.medical_specialty, medicine, Pyruvate dehydrogenase kinase, Pyruvate dehydrogenase complex, Lactic acidosis, medicine.disease, Dihydrolipoyl transacetylase, Mitochondrial pyruvate transport, Pyruvate carboxylase, Biology, Gluconeogenesis
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