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Semin Neurol 2012; 32(05): 506-511
DOI: 10.1055/s-0033-1334469
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Late-Onset Pompe's Disease

James W. Teener
1   Department of Neurology, University of Michigan Health System, Ann Arbor, Michigan
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Publication History

Publication Date:
15 May 2013 (online)

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Abstract

Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. Such treatment results in marked improvement in patients with infantile Pompe's disease, and modest improvement or stabilization in patients with late-onset Pompe's disease.

Keywords

Pompe's disease - acid maltase deficiency - lysosomal storage disease - glycogen storage disease type II
 

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