Burmese Hypokalemia

Burmese hypokalemia, also known as familial episodic hypokalaemic polymyopathy, is a recessive genetic defect characterized by episodes of low serum potassium levels and high CPK (creatine phosphate kinase, an enzyme that indicates muscle damage). Clinical signs include episodes of skeletal muscle weakness which can affect the whole animal or may be restricted to certain muscles. This is most obvious in the neck muscles, but sometimes occurs in just the limbs. As a result affected cats may show problems with walking and holding their head correctly. The disease is not typically fatal and affected cats usually can be managed by adding potassium supplements to their diet. For specifics on management of this condition, owners are urged to consult with their veterinarian.

The genetic mutation responsible for this disease was identified by a team of researchers from the University of Bristol (England), the Lyons Feline Genetics Research Laboratory at University of California, Davis, University of Sydney, Massey University, and Justus Liebig University. A nonsense mutation in WNK lysine deficient protein kinase 4 (WNK4) (c.2902C>T) results in a premature stop, resulting in a shortened protein product.

Testing for Burmese hypokalemia assists owners and breeders in identifying affected and carrier cats. Breeders can use these tests as a tool to avoid breeding carriers together, which would produce 25% affected offspring.