Glucose-6-Phosphatase, Catalytic (G6PC)

The basic defect resides in glucose-6-phosphatase. The liver and kidney are involved, and hypoglycemia is a major problem. Lipidemia also occurs and may lead to xanthoma formation. Survival to adulthood, previously rare, is now the usual situation. Hyperuricemia has been observed in a considerable number of patients and in some clinical gout has occurred. Inhibited tubular secretion of uric acid due to hyperlactic acidemia and ketonemia, and overproduction of uric acid have been postulated. the effects of glycerol administered by mouth on levels of glucose and of lactate, together with the response to epinephrine or glucagon, permitted differentiation of the several types of hepatic glycogenosis (I, II, III and IV). The glycogen storage diseases are notable examples of genetic heterogeneity.