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Dihydropyrimidinase Deficiency (Feline)

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Test Overview:

Dihydropyrimidinase Deficiency affects cats and is an enzyme deficiency disease. Dihydropyrimidinase is one enzyme from the pyrimidine degradation pathway. Deficiency in this enzyme can result in a rare inborn metabolic syndrome and is characterised by dihydropyrimidinuria. Signs of the disease can include vomiting, depression, increased blood ammonia concentrations and malnutrition.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

DPYS

Variant Detected:

c.1303G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier for Dihydropyrimidinase Deficiency disease.

Research Citation(s):

Chang, H.S., Shibata, T., Arai, S., Zhang, C., Yabuki, A., Mitani, S., Higo, T., Sunagawa, K., Mizukami, K., Yamato, O. : Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep 6:21-6, 2012. Pubmed reference: 23430934.

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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