Pyruvate Kinase Deficiency (PKDef) – West Highland White Terrier
Kodas: H971
Short description
Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development.
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 and Cairn Terrier. Related variants are also found in the Basenji, Labrador Retriever, Pug and Beagle.
Specifications
| Breeds | |
|---|---|
| Gene | PKLR |
| Chromosome | 7 |
| Mutation | c.1333_1338dup |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
References
Pubmed ID: 10490091
Year published: 1999
Omia ID: 844
Omia variant ID:
Turnaround information
- 10 working days