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 description Clinically, PK-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic deficisncia, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.

Two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin cinxsa. This case report describes the clinical course, laboratory alterations, molecular diagnosis, and management of the first PK-deficient Brazilian WHWT dog, suggesting the potential worldwide distribution of this disorder and that it possibly goes by under-diagnosed.

J Vet Intern Med 21, Create a free PDF file from any document. Due to the postnatal development of the RBC metabolism, the clinical signs of PK deficiency in dogs are not detected until approximately 4 months of age, as seen in this puppy. Dogs with PK deficiency often have normal white blood cell counts.

Piruvato quinase – Wikipédia, a enciclopédia livre

On blood smear evaluation anisocytosis, marked polychromasia, and normoblastosis were present. However, no spherocytes, Heinz bodies, poikilocytes or infectious agents were detected, and the direct Coomb’s test was negative for IgG antibodies on RBCs. Vet J Biochemical and molecular genetic tests have been developed for many diseases; however, their application as diagnostic tools for companion animals is still limited. Inherited erythrocyte pyruvate kinase deficiency in the West Highland White terrier.


Pyruvate kinase PK deficiency in newborns: The high erythrocytic content of 2,3-DPG facilitates the easy release of oxygen from hemoglobin by the lower hemoglobin-oxygen affinity, which in turn improves oxygen delivery and enhances tissue oxygenation, thereby ameliorating the clinical signs of the severe anemia.

J Am Vet Med Assoc The dog had been previously transfused without blood typing and crossmatching. The dog was euthanized at 20 months of age due to the deterioration of its clinical condition including anemia and blood incompatibility.

PK deficiency is diagnosed by measuring PK enzymatic activity.

Molecular basis of erythrocyte pyruvate hemolifica R-PK deficiency in cats. 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.

Pyruvate kinase deficiency is the most common erythroenzymopathy in humans, dogs and cats.

Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. Affected dogs may be first discovered only because of very pale mucous membranes on routine examination. 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.



The dog had been previously transfused without blood typing and crossmatching. The precise mechanisms that cause extravascular hemolysis are as yet unknown, but an important feature involves the selective sequestration of PK-deficient young red blood cells, in particular reticulocytes, by the spleen.

If either pyruvate kinase PK or phosphofructokinase PFKthe two key regulatory enzymes in anaerobic glycolysis, is deficient, erythrocytic ATP production will be impaired and red blood cells RBCs will have a shortened survival. Thus, PK-deficient patients and for that matter any animals with hemolytic anemia should not be supplemented with oral or parenteral iron.

Piruvato quinase

Health care resources for this disease Expert centres Diagnostic tests 40 Patient organisations 39 Deficincia drug s 1. Feline congenital erythropoietic porphyria: To date, more than mutations in PKLR have been reported.

This was unfortunately done in this case, which emphasizes cinada importance of classifying the regenerative anemia into hemolytic versus blood loss anemia and reaching a definitive diagnosis. InfancyNeonatal ICD Based upon the clinical signs and anemia a transfusion was deemed necessary. As noted in this case, transient improvements and clinical stabilization can be observed.

Dog erythrocyte antigens 1. Mol Med 16,