Mitochondrial phosphoenolpyruvate carboxykinase deficiency
- 1 April 1986
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 145 (1-2) , 46-50
- https://doi.org/10.1007/bf00441851
Abstract
A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. Disordered liver function tests were associated with the biopsy appearances of a giant cell hepatitis and with a Fanconi syndrome. At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. She became increasingly irritable and hypotonic and, although initially liver and renal function improved, she deteriorated and died of hepatocellular failure and septicaemia. A post-mortem revealed massive fatty degeneration of the liver. The activity of phosphoenolpyruvate carboxykinase in her cultured skin fibroblasts was 16% of controls. Her brother died at the age of 4 weeks of sudden infant death syndrome.Keywords
This publication has 20 references indexed in Scilit:
- Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylationClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Phosphoenolpyruvate shuttle ‐ transport of energy from mitochondria to cytosolFEBS Letters, 1983
- Gluconeogenic enzymes in fibroblasts from infants dying of the sudden infant death syndrome (SIDS)European Journal of Pediatrics, 1983
- Studies on cultured fibroblasts from patients with defects of biotin‐dependent carboxylationJournal of Inherited Metabolic Disease, 1981
- Comparative inhibition of mitochondrial and cytosolic phosphoenolpyruvate carboxykinases by stereospecific substrate analogues.Proceedings of the National Academy of Sciences, 1981
- Sudden infant death and liver phosphoenolpyruvate carboxykinase analysisForensic Science International, 1980
- Regulation of Hepatic Fatty Acid Oxidation and Ketone Body ProductionAnnual Review of Biochemistry, 1980
- Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase DeficiencyPediatric Research, 1979
- GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal HypoglycaemiaActa Paediatrica, 1976
- TWO CASES OF PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCYActa Paediatrica, 1976