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Glycogen storage disease II is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Glycogen storage disease II is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes. The affected dogs mimic infantile-onset Pompe disease genetically, but also clinico-pathologically.
Clinical features
Deficiency of acid α-glucosidase leads to storage of glycogen inside lysosomes and eventually also to cytoplasmic glycogen storage. Ultimately, the accumulation of glycogen results in tissue destruction reflected by a spectrum of clinical phenotypes ranging from a fatal infantile form of Pompe disease to a slowly progressive late-onset form.
Additional information
Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II.
References
Pubmed ID: 23457621
Omia ID: 419