Glycogen storage disease (GSD II) (Pompe disease)
Glycogen storage disease (GSD II) (Pompe disease)
General description
Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose in lysosomes. Affected dogs suffer from vomiting, progressive muscle weakness and loss of condition. Heart disease leads to death at about 1.5 years of age.
Breeds
Finnish Lapponian Dog, Lapponian Herder, Swedish Lapphund
Order details
| Test number | 8513 |
| Abbreviation | GSD II |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | GAA |
| Mutation | C-T |
| Literature | OMIA:000419-9615 |
Detailed description
Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose in lysosomes. Affected dogs suffer from vomiting, progressive muscle weakness and loss of condition. Heart disease leads to death at about 1.5 years of age.
