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H741

Pyruvate kinase deficiency (PKD) is caused by a mutation in the PKLR gene.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Pyruvate kinase deficiency (PKD) is caused by a mutation in the PKLR gene. Due to this mutation an important enzyme in the pyruvate kinase pathway is affected and cannot produce enough ATP. ATP shortage leads to erythrocyte lysis, which leads to severe regenerative hemolytic anemia.

Clinical features

Young adult dogs show signs of severe macrocytic hypochromic regenerative hemolytic anemia. The clinical signals are; intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age.

Additional information

References

Pubmed ID: 22805166

Omia ID: 844

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