Disorder - Pyruvate kinase deficiency of erythrocytes

Organ Systems Involved
Cardiovascular

Presenting Signs

This condition affects an enzyme that is essential in the functioning of red blood cells, enabling the cells to produce energy. The enzyme is called pyruvate kinase. If the enzyme is absent or reduced, the red blood cells are unable to produce energy. This causes the cells to become fragile and have a shortened survival time. The spleen and liver rapidly remove the abnormal blood cells from the circulation because of their increased fragility and their easily deformed cell membranes. This results in anaemia.

The most common symptoms displayed by cats with pyruvate kinase deficiency are non-specific and include lethargy, diarrhoea, pale mucous membranes (moist surfaces such as the inside of the mouth), a reduced appetite, poor coat, weight loss, jaundice (yellowing of the unpigmented skin and eyes) and eating unusual material (called pica). It is suggested that cats with this genetic defect often do not display any clinical signs and that a stressful event can lead to the development of significant anaemia.

Cats at Risk

Cats may be anywhere from 0.8 to 7.8 years old at the time clinical signs first appear.

Breeds Affected
Abyssinian
Somali


Treatment

There are no current recognised treatments. Bone marrow transplants have been attempted in dogs with little success. Removing the spleen has had some success in cats. By removing the organ (spleen) which recognises and removes the abnormal red blood cells, the cells are able to survive longer in the circulation.

PubMed References
Pyruvate kinase deficiency of erythrocytes

Contributor
Neil Christensen