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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.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Affiserte hunder kan få muskelkramper og tåler dårlig trening. De er ofte dårlig muskelsatt. Hunden kan også oppleve en akutt alvorlig anemi etter overdreven trening, stress eller eksponering for varme. Den lave blodprosenten gir symptomer i form av sløvhet, feber, gulsott og mørk farget urn (hemoglobinuri). Hunden kan vanligvis komme seg etter denne krisen i løpet av noen dager, og affiserte hunder kan ha en normal levetid.
Tilleggsinformasjon
Referanser
Pubmed ID: 22446493
Omia ID: 421