Acid maltase deficiency occurs in

Pompe DiseaseAcid maltase (acid a-glucosidase) deficiency, also called Pompe disease, is a glycogen and lysosomal storage disease with autosomal recessive inheritance.The classic severe infantile form presents with hypotonia, myocardiopathy, and hepatosplenomegaly.This variant is rapidly progressive and generally results in death in the first year of life. However, as with other lysosomal diseases, there are early- and late-onset forms of this disorder.The late-onset patients typically present with a slowly progressive myopathy that may resemble a limb-girdle muscular dystrophy. Respiratory insufficiency may develop with advancing disease.In late stages of the disease, patients may require mechanical ventilation, repo swallowing difficulties, and experience loss of bowel and bladder control.Myocardiopathy is not usually seen in late-onset variants of Pompe disease.