Pompe Disease

Le résumé fourni par la source

Pompe disease (glycogen storage disease type 2, acid maltase deficiency) is an uncommon, progressive, autosomal recessive lysosomal storage disorder caused by a lack of the enzyme acid α-glucosidase. The enzyme deficiency results in the abnormal buildup of glycogen in lysosomes, especially in skeletal, cardiac, and smooth muscle. The disease can affect multiple organ systems, notably the cardiovascular system. The introduction and approval of enzyme replacement therapy (alglucosidase alfa; Myozyme/Lumizyme) in 2006 dramatically changed the outlook for infantile-onset Pompe disease, transforming what was once a uniformly fatal cardiomyopathy into a treatable condition. Nonetheless, long-term follow-up of patients receiving enzyme replacement therapy has uncovered ongoing cardiac issues; persistent conduction defects, arrhythmias, and residual myocardial fibrosis highlight the need for continued cardiovascular monitoring in these individuals.

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