Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

摘要

Glycogenosis type II (GSDII), or acid maltase deficiency, is a disorder affecting skeletal and cardiac muscle and is caused by a deficiency of acid alpha-glucosidase (GAA). The disease encompasses a wide spectrum of clinical presentations, ranging from very severe cases presenting soon after birth (the "classic" infantile form) to milder, late-onset cases. Infant patients show a rapidly progressive course of the disease, with muscle weakness, hypertrophic cardiomyopathy, and death usually before the first year of age; alpha-glucosidase is virtually absent. Affected children and adults show a more slowly progressing myopathy with decreased limb strength and often impaired respiratory muscle function. The adult-onset form was first recognized by Engel. Variable levels of GAA were described in muscle and leukocytes from patients with infantile, childhood, and adult forms by Engel and Angelini, whereas morphologic and biochemical abnormalities were also found in adult-cultured fibroblasts, showing the multisystemic involvement of the enzyme defect.