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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.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
I cani affetti presentano crampi muscolari e intolleranza all'esercizio fisico, oltre a possibile atrofia muscolare. Possono anche manifestare una crisi emolitica (anemia acuta grave) dopo un eccessivo esercizio fisico, eccitazione o esposizione al calore. La crisi provoca letargia, febbre, ittero (bianco degli occhi ingiallito) ed emoglobinuria (urina viola). Il cane può in genere riprendersi da questa crisi entro diversi giorni e i cani colpiti possono avere una durata di vita normale.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 8702726
Omia ID: 421