Pompe's disease
From Biocrawler, the free encyclopedia.
Pompe's disease is an acid maltase deficiency, a type II glycogen storage disease. It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. Transmission is by autosomal recessive inheritance. The infantile form, in which death usually occurs by age 2, is characterized by muscle weakness and an enlarged heart and tongue.
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External links
- Pompe's disease page at Online Mendalian Inheritance in Man (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232300)fr:Maladie de Pompe
