Imbalance of liver phosphorylase and accumulation of hepatic glycogen in a girl with progressive disease of the brain

Over a period of 5 years, 2 open biopsies and 9 needle biopsies of the liver were done in a 6-year-old white girl with progressive brain disease and hepatomegaly. They showed excessive accumulation of hepatic glycogen and consistently low activity of liver phosphorylase. Administration of glucagon increased the activity of hepatic phosphorylase to normal. A primary defect in the metabolism of neurohormones, effective as phosphorylase activators, might be responsible for the progressive brain disease and the deactivation of hepatic phosphorylase.