Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
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.
D001706:Biopsy; D005183:Failure to Thrive / Q000209:etiology; D005198:Fanconi Syndrome / Q000175:diagnosis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005943:Gluconeogenesis; D006505:Hepatitis / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D007677:Kidney Function Tests; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000172:deficiency*; D015324:Pyruvate Carboxylase Deficiency Disease; D012867:Skin / Q000201:enzymology; D013398:Sudden Infant Death / Q000209:etiology
D010729:Phosphoenolpyruvate Carboxykinase (GTP)