Glycogen Storage Disease Type II

Glycogen Storage Disease Type II

Glycogen storage disease type II (GSD2, Pompe Disease) is a recessive metabolic disorder, creating glycogen deposits inside lysosomes within the muscular tissue.

This disease is either classified as early (infantile, classic) or late-onset (non-classic). Early-onset has a severe presentation and is likely to feature a fatal outcome, should prompt treatment not be available. A common cause of lethality for both onsets is respiratory insufficiency, which manifests at different ages in late-onset. Another important cause of lethality in infantile-onset is left ventricular outflow obstruction.

Preventive treatment consists of enzyme replacement therapy (alglucosidase alfa), maintaining an updated immunization schedule, and respiratory syncytial virus (RSV) prophylaxis. Adults developing signs of respiratory insufficiency can benefit from respiratory exercises or assisted mechanical ventilation, which may also be convenient for children.


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