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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Deficiencia de piruvato cinasa symptomatic cholelithiasis or cholecystitis. There was no evidence of blood loss anemia, and hemplitica examinations for intestinal parasites were negative.

J Am Vet Med Assoc J Vet Intern Med 21, Feline congenital erythropoietic porphyria: Molecular basis of erythrocyte pyruvate kinase R-PK deficiency in cats. Different causative PK mutations have been identified in different breeds hemoligica as Basenjis, Beagles, WHWT, while within a breed all affected dogs have the same mutation.

Hum Mol Genet 19, Methaemoglobin reductase deficiency in dogs. Prior cholecystectomy is not exclusionary. Hereditary Erythrocyte Enzyme Abnormalities. Vet Clin Pathol 35, Textbook of Veterinary Internal Medicine: Feline acute intermittent porphyria: The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be avoided. PK is a key regulatory enzyme of glycolysis and two major metabolic abnormalities result from PK deficiency: The authors thank the owners of the patient reported in this study case for their patience and care.



Usually the dogs that live longer develop xe liver disease with hemosiderosis. Inherited metabolic disease in companion animals: The approach should be fast so that we can offer a better survival for these patients. Two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.

Treatment andlong-term follow-up of extrahepaticbiliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency: Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat.

J Feline Med Surg 9, 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 Have a prior bone marrow or stem cell transplant 8.

It should be noted that the fall in PCV observed in the last month of life was associated with a diminished bone marrow response, as shown by both the lower absolute reticulocyte count and reticulocyte production index.

Bone marrow transplantation can cure PK deficiency but is rarely performed. In veterinary clinics, it is more important to recognize PK deficiency in order to avoid excessive diagnostic procedures for the affected dogs and unnecessary or even harmful treatments with medications such as immunosuppressive agents and iron supplementation.

Breed-specific hereditary diseases and genetic screening. Unless a hemolytic crisis develops, transfusions are rarely needed in PK-deficient dogs and cats, as they adapt quite well and can live in good health as house pets, sometimes for years without treatment. The clinical chemistry profile showed mild hyperbilirubinemia 0. J Feline Med Surg 9, Pyruvate kinase PK deficiency in hemllitica Due to the severity of clinical signs and anemia, the dog was still transfused with fresh whole blood from the “universal donor” DEA 4 positive only.


Current or recent history of psychiatric disorder that, in the opinion of the Investigator or Medical Monitor, could compromise the ability of the subject to cooperate with study deficienciaa and procedures 3.

Piruvato quinase – Wikipédia, a enciclopédia livre

For all the other canine breeds, detailed enzymatic activity tests that include the characterization of the isoenzymes or heat-lability are necessary. In fact, considering the high mortality rate of dogs with immune-meditated hemolytic anemia, PK deficiency may offer a better prognosis. 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.

Vet Clin Pathol 20, Because PK deficiency causes a distal metabolic block in the anaerobic glycolytic pathway, the proximal glycolytic metabolites, including 2,3-diphosphoglycerate 2,3-DPGtend to accumulate, while distal metabolites like ATP become depleted in erythrocytes.

Dogs with PK deficiency often have normal white blood cell counts.