Pyruvatkinasedefizienz (PK) - West Highland White Terrier Diversität Fellfarbverdünnung und neurologische Defekte (CDN)

Fellfarbverdünnung und neurologische Defekte (CDN) sind eine Gruppe seltener genetischer Erkrankungen

The dog carries two copies of the dominant D allele and expresses normal undiluted coat colour

Allerdings werden nicht alle Hunde mit den Varianten DCM entwickeln

Reduction of genetic risks

die Menschen und Tiere

Pyruvatkinasedefizienz (PK) - West Highland White Terrier Diversität Fellfarbverdünnung und neurologische Defekte (CDN)Canine pyruvate kinase deficiency (PK deficiency) is an autosomal recessive disorder of cardiovascular system. Pyruvate kinase (PK) is essential for glycolysis in erythrocytes, which deliver oxygen to tissues. PK deficiency results in erythrocytes with decreased energy, in such ATP needed for energy cannot be synthesized, and cellular death occurs. The symptoms occur between 4 months and 1 year of age and include severe haemolytic anaemia,