Anomalous pyruvate kinase deficiency in the Basenji dog
Standerfer, R.J.; Templeton, J.W.; Black, J.A.
American Journal of Veterinary Research 35(12): 1541-1543
1974
ISSN/ISBN: 0002-9645 PMID: 4433071 Document Number: 81880
Pyruvate kinase activity was measured in red blood cells (RBC) of Basenji dogs affected with congenital haemolytic anaemia due to pyruvate kinase deficiency and in RBC of carriers of the trait. The carrier dogs had approximately half the level of normal activity; however, the homozygous, affected dogs had unexpectedly high enzyme activity which was not due to the young age of their RBC population. Seemingly, the genetic alteration in the enzyme makes the molecule unstable in vivo; in vitro evidence is presented to support this contention. Results of in vitro studies provided the basis for the unambigous detection of the various phenotypes of the trait.