Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses.

Fernandes, J., Koster, J. F., Grose, W. F. A., and Sorgedrager, N. (1974). Archives of Disease in Childhood, 49, 186. Hepatic phosphorylase deficiency: its differentiation from other hepatic glycogenoses. Two brothers with glycogen storage disease of the liver are reported. The clinical symptoms were hepatomegaly and a slight muscle hypotonia; hypoglycaemic symptoms seldom occurred. There was deficient activity of phosphorylase and normal phosphorylase b kinase activity in the leucocytes and in the liver. Three aspects of carbohydrate metabolism were investigated. Glycogenolysis was studied by glucagon tests, either performed after an overnight fast or postprandially; the ensuing glucose curves were flat or almost flat. Glycolysis was investigated by oral tolerance tests with glucose, galactose, or fructose; the ensuing blood lactate curves showed a significant lactate increase. Gluconeogenesis was investigated by tolerance tests with L-alanine or glycerol administered intravenously, and dihydroxyacetone administered orally; the ensuing plasma glucose curves were characterized by a rapid conspicuous glucose increase. A screening method is described to diagnose tentatively a phosphorylase deficiency on the basis of hexose and glucagon tolerance tests.