In 2 unrelated children, Hommes et al. (1976) observed hypoglycemia and liver impairment, with deficiency of PEPCK (614095) in liver tissue taken immediately after death. Massive fatty deposition in liver and kidneys was found at autopsy. Fiser et ... In 2 unrelated children, Hommes et al. (1976) observed hypoglycemia and liver impairment, with deficiency of PEPCK (614095) in liver tissue taken immediately after death. Massive fatty deposition in liver and kidneys was found at autopsy. Fiser et al. (1974) also observed hypoglycemia caused by deficiency of PEPCK. Other enzymatic causes of hypoglycemia include deficiency of glucose-6-phosphatase (232200), fructose-1,6-diphosphatase (229700), and pyruvate carboxylase (608786). Robinson et al. (1980) studied skin fibroblast cultures from 40 pediatric cases of lactic acidosis. They found one case in which mitochondrial activity of phosphoenolpyruvate carboxykinase was 6% of normal. See 261680 for a discussion of cytosolic PCK deficiency.