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Glycogen Storage Disease VII, 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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 27 |
| Mutation | c.550C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GSD VII |
Informations générales
Glycogen Storage Disease VII, 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 Wachtelhund. A closely related variant is also found in the Cocker Spaniel, English Springer Spaniel and Whippet.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 22446493
Year published: 2012
Omia ID: 421
Omia variant ID: 45