Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency
- 17 February 1987
- journal article
- conference paper
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 10 (4) , 359-366
- https://doi.org/10.1007/bf01799978
Abstract
A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.This publication has 22 references indexed in Scilit:
- Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.Journal of Clinical Investigation, 1986
- Fatal Case of Pyruvate Dehydrogenase DeficiencyActa Paediatrica, 1985
- Amino acid profile in pyruvate carboxylase deficiency: Comparison with some other metabolic disordersJournal of Inherited Metabolic Disease, 1982
- An improved method for the assay of platelet pyruvate dehydrogenaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Failure of the Normal Ureagenic Response to Amino Acids in Organic Acid-loaded RatsJournal of Clinical Investigation, 1980
- Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.Journal of Clinical Investigation, 1979
- Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiencyThe Journal of Pediatrics, 1978
- In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stainExperimental Cell Research, 1977
- Rapid separation of particulate components and soluble cytoplasm of isolated rat-liver cellsBiochimica et Biophysica Acta (BBA) - Bioenergetics, 1974
- A COLORIMETRIC DETERMINATION OF OROTIC ACIDTHE JOURNAL OF VITAMINOLOGY, 1963