Pyruvatkinase-Defizienz · Pyruvate Kinase Deficiency · PK deficiency · Erythrocyte Pyruvate Kinase Deficiency · PK-Defizienz · Erythrozyten-Pyruvatkinase-Mangel · Erythrozyten-Pyruvatkinase-Defizienz · Pyruvatkinase-Mangel · Nonspherocytic hemolytic anemia · Congenital nonspherocytic hemolytic anemia · NSHA · Erythrozytärer Pyruvatkinasemangel
Pyruvate kinase (PK) deficiency is an inherited metabolic disorder affecting red blood cells, which lack a vital enzyme needed to produce energy. Without this enzyme, the red blood cells break down prematurely, leading to a severe shortage of oxygen-carrying cells, a condition known as chronic anemia. Over time, this constant cell destruction can cause secondary damage to organs like the liver and bone marrow.
Symptoms such as extreme lethargy, pale gums, and a low tolerance for exercise typically become noticeable between 4 months and 1 year of age. As the disease progresses, it leads to severe liver and bone marrow damage, with most affected dogs not surviving past 4 years of age.
The condition is incurable, meaning treatment is limited to lifelong supportive care such as blood transfusions. Managing this disease requires ongoing veterinary support, with typical lifetime costs ranging from €2,000 to €8,000.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the Heart.