Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?

Abstract

Pompe disease is a glycogen storage disorder caused by deficiency of acid α-glucosidase (GAA), which degrades lysosomal glycogen, leading to a wide spectrum of symptoms and variable rate of disease progression. In children, severe GAA deficiency results in cardiomyopathy, hypotonia, and respiratory insufficiency leading to death within the first year of life, whereas this disease is generally restricted to skeletal and respiratory muscles in adults with a slow disease progression over decades.1 Results of clinical trials with biweekly infusions of recombinant human GAA …