Pompe disease

Abstract

Pompe disease is part of the diseases related to storage alterations or abnormal metabolism of glycogen. This disease, also known as, acid maltase deficiency, type IIA glycogen storage disease or acid α-glucosidase deficiency (GAA), was the first described glycogen storage disease, it has an inherited autosomal recessive transmission with more than 200 pathogenic variants described so far. Its frequency of presentation is very low and its presentation, severity and phenotype, as well as at the time of onset of symptoms depend on the degree of residual activity of GAA or its complete absence. The most severe form, called classic infantile onset Pompe disease, begins before 12 months of age, presents with rapidly progressive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, hypotonia, muscle weakness, respiratory distress and progressive loss of ventilatory independence. The less severe form, which generally presents after 12 months of age and is called late-onset Pompe disease, usually does not present a severe cardiac compromise and its symptoms are mainly related to proximal muscle compromise that manifests with progressive muscle weakness, loss of autonomy for muscular activities and finally compromise of the respiratory muscles. Fortunately, we have adequate methods for the diagnosis and follow-up, and enzyme replacement therapy that have significantly modified the clinical course of the disease and its mortality.