POMPE DISEASE TREATMENT - ACID ALPHA-GLUCOSIDASE DEFICIENCY

Abstract

The aim of this paper is to describe the pathogenesis and treatment of Pompe disease. A bibliographic review was performed by searching scientific papers published between 2004 and 2014. Patients with deficiency in the enzyme acid alpha-glucosidase, develop Pompe disease, which results in an accumulation of glycogen within (inside) lysosome, causing damage and organ dysfunction in muscle tissue, with difficulty in breathing, locomotion, speech and hearing. The enzyme replacement therapy is the specific alternative to treatment for Pompe, significantly improving cardiac function and mortality reduction. However, the need for injection of large doses of enzyme, and loss of 80% of the enzyme due to high hepatic metabolism and the treatment cost hamper their use. The dose which showed the best results was 20 mg/kg of the enzyme once every two weeks. However, despite the high cost of treatment, the benefits of decreased symptoms in patients are important, such as the improvement in performing activities of daily living, increased muscle strength, reduced fatigue and improves pulmonary function. There are also alternative treatments, but are still under study. Among the treatments, the one with a better prognosis is replacement with recombinant human enzyme. The enzyme replacement therapy many patients brought survival due to decreased cardiac hypertrophy and improvement in motor symptoms.