Felis ISSN 2398-2950

Pyruvate kinase deficiency

Synonym(s): PK deficiency

Contributor(s): Michael Day, URS GIGER

Introduction

  • Pyruvate kinase (PK) deficiency is an inherited erythrocyte enzyme deficiency that was first documented in Abyssinian, Somali, and domestic shorthair cats in the early 1990s.
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Pathogenesis

Predisposing factors

General

  • Genetic mutation so no predisposing factors. It is possible that stressors or concurrent infection (eg retroviral, feline hemoplasma) might compound the anemic state and precipitate clinical signs.

Pathophysiology

  • Erythrocytes generate energy via anaerobic glycolysis producing adenosine triphosphate (ATP). Two key enzymes are required for the production of ATP - phosphofructokinase (PFK) and pyruvate kinase (PK). Without activity of either of these enzymes, there is insufficient ATP production so erythrocytes are unable to maintain their viability and structural integrity resulting in destruction of red cells and anemia.
  • The PK isoforms in cats have not been studied.
  • The pathogenesis of the molecular abnormality in feline PK deficiency involves a defect in gene splicing. This splicing defect results in a deletion of 13 base pairs at the 3 end of exon 5 of the complementary DNA (cDNA as opposed to genomic DNA) of RL-PK. The molecular defect is as expected identical in the related breeds.
  • Myelofibrosis and osteosclerosis do not develop in affected cats and the erythrocytes of affected cats do not express high levels of M2-PK. These are both exclusive features of canine PK deficiency.

Timecourse

  • Affected cats may present at a young age (months) and live to adulthood. Alternatively, clinical presentation may not occur until adulthood or because of their laid back lifestyle remain asymptomatic.

Epidemiology

  • Not known.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Grahn R A, Grahn J C, Penedo M C et al (2012) Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res 8, 207 PubMed
  • Kohn B & Fumi C (2008) Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. J Fel Med Surg 10 (2), 145-153 PubMed.
  • Kohn B, Goldschmidt M H, Hohenhaus A E et al (2000) Anemia, splenomegaly, and increased osmotic fragility of erythrocytes in Abyssinian and Somali cats. JAVMA 217 (10), 1483-1491 PubMed.
  • Giger U, Rajpurohit Y, Wang P, Ford S, Kohn B, Patterson D F, Beutler E, Henthorn P S (1997) Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats. Blood 90 (Suppl), 5b.
  • Ford S, Giger U, Duesberg C et al (1992) Inherited erythrocyte pyruvate kinase (PK) deficiency causing hemolytic anemia in an Abyssinian cat. J Vet Intern Med (2), 123 VetMedResource.

Other sources of information

  • Giger U (2001) Erythrocyte phosphofructokinase and pyruvate kinase deficiency. In: Feldman B F, Zinkl J G, Jain N C eds. Schalms Veterinary Haematology, 5th edn. Philadelphia: Lippincott, Williams & Wilkins, pp1020-1025.

Organisation(s)


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