Pyruvate kinase (PK) deficiency(PKD)
Also known as: Pyruvatkinase-Defizienz · Pyruvate Kinase Deficiency · PK deficiency · Erythrocyte Pyruvate Kinase Deficiency · PK-Defizienz · …
Overview
What it is
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.
How it presents
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.
Treatment
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.
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
Nonspherocytic Hemolytic Anemia (NSHA) DNA-Test(NSHA)
Primary testDNA testEin DNA-Test identifiziert die ursächliche Mutation im GPI-Gen (Glukose-6-Phosphat-Isomerase), welche zu dieser Form der hämolytischen Anämie führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
PKD1 DNA-Test(PKD)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im PKD1-Gen, welche für die Entstehung von Zystennieren verantwortlich ist.
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 Pyruvate kinase (PK) deficiency?
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.
How is Pyruvate kinase (PK) deficiency tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Nonspherocytic Hemolytic Anemia (NSHA) DNA-Test, PKD1 DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: American Eskimo Dog, Basenji, Cairn Terrier, Dachshund, Miniature Poodle, West Highland White Terrier.