A screening method for liver glycogen diseases.

Abstract

The majority of patients with glycogenosis of the liver have one of three types of enzyme deficiency: deficiencyofglucose-6-phosphatase, ofthe debranch- ing enzyme system, or of the phosphorylase system (Illingworth, 1961; Hers and Van Hoof, 1968). The severity of the disease and of its manifestations, such as hypoglycaemia and acidosis, is related to the underlying enzyme defect (van Creveld and Huijing, 1965).