Phosphofructokinase (PFK) deficiency(PFK)
Also known as: Phosphofructokinase deficiency · PFK deficiency · Glycogen storage disease type VII · GSD VII · Phosphofructokinasemangel · …
Overview
What it is
This inherited metabolic disorder is caused by a lack of a key enzyme needed to break down sugar for energy in red blood cells and muscles. Without this enzyme, these cells cannot function properly, leading to muscle damage and the premature destruction of red blood cells, which is called hemolysis. This deficiency primarily impacts the muscular and circulatory systems.
How it presents
Symptoms typically first appear in young adulthood and are often triggered by exercise, excitement, or high temperatures. Owners may notice sudden muscle weakness, heavy panting, fever, and dark-colored urine during these episodes.
Treatment
There is no cure, so management is lifelong and focuses on avoiding strenuous exercise and stress to prevent acute crises. If severe episodes occur, supportive care or blood transfusions may be required, with lifetime management costs typically ranging from 1,000 to 5,000 EUR.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Phosphofructokinase (PFK) deficiency?
This inherited metabolic disorder is caused by a lack of a key enzyme needed to break down sugar for energy in red blood cells and muscles. Without this enzyme, these cells cannot function properly, leading to muscle damage and the premature destruction of red blood cells, which is called hemolysis. This deficiency primarily impacts the muscular and circulatory systems.
How is Phosphofructokinase (PFK) deficiency tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: English Springer Spaniel, Whippet.