Glycogen Storage Disease VII (GSD7) / Phosphofructokinase Deficiency (PFK Def)
Kodas: H717
Short description
Glycogen Storage Disease VII (GSD7), also known as Phosphofructokinase Deficiency (PFK), is a metabolic disorder that affects the energy reserves of cells and can cause anaemia, weakness and a low tolerance for muscle exertion.
General information
Glycogen Storage Disease VII (GSD7), also known as Phosphofructokinase Deficiency (PFK), is a metabolic disorder that affects the energy reserves of cells and can cause anaemia, weakness and a low tolerance for muscle exertion. The disease is caused by a recessive mutation to the gene PFKM. The variant analysed in this test is found in the Cocker Spaniel, English Springer Spaniel and Whippet. A closely related variant is also found in the Wachtelhund.
Specifications
| Breeds | |
|---|---|
| Gene | PFKM |
| Chromosome | 27 |
| Mutation | c.2228G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GSD VII |
Clinical features
Affected dogs present with muscle cramps and an intolerance of exercise, as well as possible muscle wasting. They may also experience a haemolytic crisis (acute severe anaemia) after excessive exercise, excitement or exposure to heat. The crisis causes lethargy, fever, jaundice (yellowed eye whites) and haemoglobinuria (purple urine). The dog can typically recover from this crisis within several days, and affected dogs can have a normal lifespan.
References
Pubmed ID: 8702726
Year published: 1996
Omia ID: 421
Omia variant ID:
Turnaround information
- 10 working days