Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)

Wayne E. Anderson, DO


August 06, 2021

An enzyme replacement therapy has been developed that has yielded significant improvement in all age groups. The US Food and Drug Administration has approved the lysosomal glycogen-specific enzyme alglucosidase alfa (Lumizyme) for the treatment of glycogen storage disease type II, including in patients younger than 8 years. With the approval of Lumizyme in all age groups, the previously approved agent Myozyme, also an alglucosidase alfa product used only for patients with classic infantile-onset disease, is no longer available.

Alglucosidase alfa carries a boxed warning on the risk for anaphylaxis, severe allergic reactions, immune-mediated reactions, and cardiorespiratory failure.

Additional treatment of glycogen storage disease type II is symptomatic and supportive. Respiratory support may be required because most patients have some degree of respiratory compromise or respiratory failure. Some patients may need respiratory assistance through mechanical ventilation support during the night and/or periods of the day or during respiratory tract infections.

Learn more about the treatment of glycogen storage disease type II.


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