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Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.1333_1338dup |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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
Les porteurs n’ont aucun signe clinique, mais ont des niveaux demi-normaux d’activité de pyruvate kinase d’érythrocyte.
Références
Pubmed ID: 10490091
Year published: 1999
Omia ID: 844
Omia variant ID: 898