Glycogenosis Type III in the Dog

Abstract

Enzyme and glycogen structure studies have been carried out on tissues of a glycogenotic dog, the clinical and pathological characteristics of which are reported in the accompanying paper. Liver glucose-6-phosphatase, leukocyte and liver acid maltase, and liver and skeletal muscle glycogen Phosphorylase all appeared largely unaffected. The activity of the muscle and liver debranching enzyme (amylo-l,6-glucosidase), determined by two independent assay methods, was, however, reduced to between 0 and 7 % of normal activity. Glycogen structure studies with Phosphorylase or iodine spectra revealed that the abnormally large amounts of glycogen found in liver and skeletal muscle had abnormally short branches, as would be expected for a deficiency of debranching enzyme. It is thus clear that the dog had suffered from the equivalent of Cori's disease (limit dextrinosis, type III glycogen storage disease). Preliminary data indicate that it may be possible to identify heterozygotes based on a study of the debranching enzyme of leukocytes.