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K754

Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia.

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Specifications

Breeds

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Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia. It is caused by insufficient activity of a regulatory enzyme and results in instability and loss of red blood cells.

Clinical features

Affected cats develop anemia. The age of onset is variable. The severity of clinical signs is also variable, symptoms can include severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement.

Additional information

References

Pubmed ID: 23110753

Omia ID: 844

Year published:

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