Branching enzyme-deficiency glycogenosis: Studies in therapy

Abstract

The fifth case is reported of glycogen storage disease type IV, characterized by accumulation of an amylopectin-like glycogen and caused by a deficiency of branching enzyme. The abnormal glycogen and enzyme deficiency were demonstrated in leucocytes when the boy was 6 months old. A course of purified fungal oc-glucosidase administered intravenously resulted in a decrease in the glycogen content of the liver from 11 to 2%. The child died at 11 months with an infection.