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Phosphofructokinase deficiency · PFK deficiency · Glycogen storage disease type VII · GSD VII · Phosphofructokinasemangel · PFKD · Glykogenose Typ VII · Glycogen Storage Disease VII · Tarui Disease
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.
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.
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.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the General / metabolic.
