Immunochemical studies of human acid alpha-1,4-glucosidase in type II glycogenosis

The results of immunochemical studies performed in 6 cases of type II glycogenosis (1 classical form, Pompe's disease) and 5 atypical forms (2 juvenile, 3 adult) are reported. The use of antiacid alpha-1,4-glucosidase antibodies greatly improved the specificity of the diagnostic tests for type II glycogenosis, particularly in fibroblasts, lymphocytes, and urine. The use of these antibodies permits the precise measurement of lysosomal enzymes and also enables to demonstrate the activating influence of potassium chloride on urinary lysosomal alpha-1,4-glucosidase. The use of such specific antibodies should prove to be an aid in genetic studies and allows a better understanding of the disease mechanism.