Glycogen Storage Disease II (GSD2, Pompe) – Dog
Kodas: H347
Short description
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.
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.
Specifications
| Breeds | |
|---|---|
| Gene | GAA |
| Chromosome | 9 |
| Mutation | c.2237G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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
Year published: 2013
Omia ID: 419
Omia variant ID:
Turnaround information
- 10 working days