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Guidelines for the investigation and management of infantile Pompe disease

These guidelines have been prepared (to assist commissioning of services for GSD type II) by a multidisciplinary group. Glycogen storage disease type II (GSD-II), is a rare autosomal recessive disease caused by the deficiency of acid α-glucosidase (GAA), which is needed for the degradation of lysosomal glycogen. Other names for GSD-II include Pompe disease, acid maltase deficiency (AMD) and glycogenosis type II.

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