Loading...

home
Order Tests for Dogs
DNA Tests
Pyruvate Kinase Deficiency (Beagle Type)

Description

Pyruvate Kinase Deficiency (Beagle Type) is an inherited metabolic disease affecting beagles. Dogs affected with this disorder have insufficient activity of the enzyme pyruvate kinase, which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (haemolysis). Affected dogs will typically present with pale gums from decreased numbers of red blood cells (Anemia) and lethargy or exercise intolerance between 4 months and 2 year of age. Clinical findings during a veterinary exam include severe anaemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anaemia or liver failure by 9 years of age.

Recommended Breeding

Diseases

Pyruvate Kinase Deficiency (Beagle Type)

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Gene:

Pyruvate kinase L/R (PKLR) Chromosome 7

Variant Detected:

chr7:42268927: G>A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference