Canine glycogen storage disease type II a biochemical study of an acid α-glucosidase-deficient Lapland dog

A biochemical study was performed in a Lapland dog suspected of glycogen storage disease type II (acid α-glucosidase deficiency, Pompe's disease). Glycogen content was substantially elevated in heart and skeletal muscle but not in the liver. Severly reduced activities of acid α-glucosidase (EC 3.2.1.20) were found in heart, skeletal muscle, liver and cultured tongue fibroblasts. The deficiency was located in the glycoprotein fraction, which supported its lysosomal origin. The electrophorogram showed after acid incubation that the affected dog was missing the activity band, while after neutral incubation the pattern was similar to control. The obtained biochemical data are compared with the known data of the human pathology.