Glycogen storage disease type II
From Freepedia
(Redirected from Pompe's disease)
| Glycogen storage disease type II | ||
|---|---|---|
| ICD-10 code: | E74.0 | |
| ICD-9 code: | 271.0 | |
Glycogen storage disease type II is an acid maltase deficiency. It is also known as Pompe's 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.
External links
- Pompe's disease page at Online Mendalian Inheritance in Man
- The website of the Pompe's Group of the Association for Glycogen Storage Disease (UK)
- International Pompe Association - A federation of Pompe disease patient's groups world-wide.
