Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.
An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.
D004796:Clinical Enzyme Tests; D004562:Electrocardiography; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D005087:Glucan 1,4-alpha-Glucosidase / Q000032:analysis*; D005959:Glucosidases / Q000032:analysis*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D000520:alpha-Glucosidases
D005959:Glucosidases; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase