fbpx

Pyruvate Kinase Deficiency (PKDef) – West Highland White Terrier H971

79,00 €

*
*

Specifications

Breeds

West Highland White Terrier

Gene

PKLR

Organ

Cardiovascular System

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Chromosome

Year Published

1999

General information

Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the West Highland White Terrier. Related variants are also found in the Basenji, Labrador Retriever, Pug and Beagle.

Clinical features

Affected dogs suffer from intermittent weakness and regenerative anaemia. This anaemia can result in secondary symptoms such as pale mucous membranes, heart murmurs and an enlarged spleen.

Additional information

Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity.