Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic . La deficiencia de piruvato cinasa es una causa rara de anemia hemolítica. Durante el embarazo, se ha tratado casos graves de esta deficiencia con. Anemia Hemolítica no esferocítica (AHCNE) por deficiencia de piruvato quinasa: informe del segundo caso en Costa Rica. Rev. costarric. cienc. méd [online].

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Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. Thus, alloantibodies against DEA 1. Hemolytic transfusion reactions in a dog with an alloantibody to a common antigen. Treatment andlong-term follow-up of extrahepaticbiliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency: In fact, considering the high anemmia rate of dogs with immune-meditated hemolytic anemia, PK deficiency may offer a better prognosis.

In this case, the patient could be negative for Dal or another antigen. Textbook of Veterinary Internal Medicine: The Dog and Its Genome. In fact, considering the high mortality rate of dogs with immune-meditated hemolytic anemia, PK deficiency may offer a better prognosis. While in the past PK-deficiency was diagnosed by erythrocytic enzymatic activity test, assessment of oxygenhemoglobin dissociation curve, and level of intermediates of the glycolytic pathway, such as 2,3-DPG, a definitive diagnosis in this case was established simply with the PCR mutation-specific test.

No clinically practical specific treatment has yet been established for PK-deficient animals. This was unfortunately done in this case, which emphasizes the importance of classifying the regenerative anemia into hemolytic versus blood loss anemia and reaching a definitive diagnosis.


The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be avoided.


J Am Anim Hosp Assoc 28, Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. Molecular basis of erythrocyte pyruvate kinase R-PK deficiency in cats.

Indeed, many PK-deficient dogs are not pirubato until one to several years of age, as the animals can often adapt well to the severe chronic anemia. In previous clinical visits babesiosis was suspect due to severe anemia and also giardiasis because the puppy had some episodes of loose and greennish faeces.

Furthermore, purebred dogs for which DNA tests for hereditary diseases are available should be screened prior to breeding in order to limit the spread of the mutant allele and to avoid future production of PK-deficient animals. Mol Med 16, At the first examination, a leukocytosis may be normal for the young age or could have been associated with another concurrent illness, which may have been corrected by supportive treatment.

As noted in this case, transient improvements and clinical stabilization can be observed. The natural occurrence of drficiencia blood disorders in animals provides a unique opportunity to study the biochemical and molecular pathogenesis of these diseases and to investigate possible therapeutic options Giger et alSewell et al The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be avoided.

Normal Hematology of the Dog. Usually the dogs that live longer develop severe liver disease with hemosiderosis. Red blood cell morphology is essentially normal.

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Chapman BL, U Giger. This Davies book on the cosmos one In this case, PK deficiency was suspected because of persistent exercise intolerance, episodes of syncope, and persistent anemia even after blood transfusions. Mutation-specific genetic tests permit the identification of homozygous and carrier dogs. Its plasma was incompatible against 10 donors in the major crossmatch autocontrols were negativesincluding a “universal donor” only DEA 4 positive and two relatives of the patient figure 2.


Have a diagnosis of any other congenital or acquired blood disorder or any other hemolytic process, except mild allo-immunization, as a consequence of transfusion therapy i.


Hemolytic anemia caused ppr hereditary piruvxto kinase deficiency in a West Highland White Terrier dog. However, the increased iron uptake due to hemolytic anemia caused by PK-deficiency is common to all species and can lead to hemosiderosis and eventually hemochromatosis, particularly after patients are transfused large iron source Schaer et al In humans, splenectomy can reduce the degree of hemolysis in some patients, but PK-deficient Basenji dogs did not improve clinically after surgery.

Hum Mol Genet 19, Pyruvate kinase is one of two key-regulatory enzymes in the anaerobic glycolytic pathway, and its deficiency causes premature destruction of the ATP-depleted red cells. Nevertheless, a transfusion was deemed so desperately needed that blood from a “universal donor” was given. InfancyNeonatal ICD For yet unexplained reasons, all PK-deficient dogs develop a progressive myelofibrosis and then osteosclerosis, as seen in this case, though PK-deficient cats and humans do not experience osteoclerosis.