The Brazilian Consensus on the Management of Pompe Disease

Abstract

T he Brazilian Consensus on the Management of Pompe Disease was established through collaboration of all Brazilian physicians known to be treating patients with Pompe disease (PD) in Brazil. It was based on the clinical presentation of 7 cases of early-onset PD (EOPD) and 18 cases of late-onset PD (LOPD) presented to a working group in the city of Rio de Janeiro in 2007. Coordinated by the Brazilian Network for Studies in PD (ReBrPOM) with key objectives of enhancing understanding of the clinical heterogeneity, progression, and natural history of this severe and lethal genetic disease, as well as providing an overview of the Brazilian experience with enzyme replacement therapy with recombinant human acid alpha glucosidase (rhGAA; Myozyme; Genzyme, Cambridge, Massachusetts). This is not an exhaustive investigation of the issue, but rather preliminary guidelines to optimize the management of these patients under the care of the Brazilian public health care system (SUS-Brasil). PD (MIM 232300), also known as glycogen storage disease type II or acid maltase deficiency, is rare, progressive, and, in its early form, often fatal. The disease is inherited in an autosomal recessive fashion and is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA; 3.2.1.20), which has an intralysosomal action and is responsible for releasing glucose units from glycogen. Glycogen buildup occurs within lysosomes of several tissues, particularly in skeletal and cardiac striated muscle cells in early-onset PD (EOPD), destroying the cells and compromising muscle fiber function. The disease may present in the first year of life, characterized mainly by hypertrophic cardiomyopathy and generalized muscular hypotonia, or after the first year through the sixth decade of life, with progressive proximal muscular weakness and respiratory complaints as the major symptoms.