Pompe Disease: A Review of the Current Diagnosis and Treatment Recommendations in the Era of Enzyme Replacement Therapy

Department of Neurology, University of South Florida, Tampa, FL 33606, USA.
Journal of clinical neuromuscular disease 06/2008; 9(4):421-31. DOI: 10.1097/CND.0b013e318176dbe4
Source: PubMed


Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset cases typically present with proximal muscle weakness and are associated with respiratory insufficiency or exertional dyspnea. Treatment, until recently, was focused on supportive measures, and infants diagnosed with Pompe disease usually died within the first year of life. The recent development of recombinant alpha-glucosidase has dramatically improved the life expectancy and quality of life of infantile-onset disease with improvements in respiratory and motor function observed in juvenile- or adult-onset cases. This review focuses on the presentation, pathogenesis, diagnosis, and treatment recommendations for Pompe disease in this new era of enzyme replacement therapy.

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    • "The most severe infantile form is devastating and rapidly fatal with cardiomyopathy, hypotonia, feeding difficulties and hepatomegaly, whereas the milder adult form is mainly characterized by proximal muscle weakness and respiratory involvement [2] [3] [4]. The introduction of enzyme replacement therapy (ERT) with recombinant human GAA has substantially modified the course of the disease, especially in infants [5], but preliminary studies also suggest clinical benefits among adults [3] [6]. "
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    ABSTRACT: Pompe disease is an inherited metabolic disorder caused by α-glycosidase deficiency. The adult onset form is mainly characterized by progressive proximal muscle weakness and respiratory dysfunction. The aim of the present study is to evaluate body composition in adult patients before and after enzyme replacement therapy (ERT). Body composition was examined at baseline by means of dual x-ray absorptiometry (DXA) in nine adult patients and after different time periods in six of them who received ERT. Total BMD (bone mineral density) was initially mildly decreased in two patients, while femoral neck BMD was decreased in five patients. On the other hand fat mass was increased in the majority of patients, while body mass index (BMI) was high in four. ERT administration did not seem to induce obvious BMD changes in any patient. Conclusively, the greater femoral neck BMD involvement may be attributed to the lower mechanical load applied by the selectively weakened muscles, whereas the increased fat mass may be the result of metabolic and nutritional derangement.
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