PMID: 16898258Aug 11, 2006Paper

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy

Acta neurologica Belgica
N A M E Van der BeekP A van Doorn

Abstract

Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for clinical practice different subtypes are recognized. The classic infantile form of the disease occurs in infants (shortly after birth) and is characterized by generalized hypotonia, failure to thrive, and cardiorespiratory failure. Patients usually die within the first year of life. The non-classic or late-onset form of the disease may occur at any age in childhood or adulthood. It presents predominantly as a slowly progressive proximal myopathy, with or without respiratory failure. Enzyme replacement therapy (ERT) is under study as treatment for the disease. The first results with recombinant human alpha-glucosidase are promising and a registered therapy seems near. Beneficial effects of ERT have been reported both in patients with the classic infantile form as well as in patients with the non-classic or late-...Continue Reading

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