Dihydropyrimidinase deficiency / DHP deficiency (DPYS-related) - Cat

DHP deficiency in cats

This genetic test analyses the DPYS variant c.1303G>A, which causes dihydropyrimidinase deficiency, also called DHP deficiency or dihydropyrimidinuria, in cats. DPYS encodes an enzyme involved in the breakdown of pyrimidines such as uracil and thymine.

When this enzyme does not function properly, metabolic products can accumulate. In cats, the condition is linked with lethargy, weakness, vomiting, poor food intake, undernutrition and increased ammonia values, especially when metabolism is under extra strain.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested DPYS variant.
• Supports breeding selection for a rare autosomal recessive metabolic disorder.
• Provides clear genetic information when DHP deficiency or abnormal pyrimidine metabolism is being considered.

The trait follows an autosomal recessive mode of inheritance. Cats with two copies of the variant are genetically affected; carriers can pass the variant to offspring.