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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.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 22446493
Omia ID: 421