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Cat DNA testing illustration

Dihydropyrimidinase Deficiency

Code: K598

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Dihydropyminidase (DHP) is an enzyme involved in essential metabolism.

General information

Dihydropyminidase (DHP) is an enzyme involved in essential metabolism. The DHP enzyme is involved in various metabolic pathways, including the breakdown of pyrimidine bases (uracil and thymine) as well as certain drugs. The mutation in the DPYS gene, causes the DHP enzyme substrate to accumulate without producing the active protein. This leads to a DHP deficiency in the body causing tiredness, weakness, vomiting, and high levels of ammonia in the blood particularly while on a high-protein diet. The extremely rare recessive mutation causing this specific version of the disorder was discovered in a Japanese cat around the early 2000s.

Specifications

Breeds

All Breeds
Gene

DPYS
Chromosome

F2
Mutation

c.1303G>A
Organ

Urinary system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

DHP deficiency

Clinical features

Affected cats show include lethargy, weakness, vomiting, and hyperammonemia. In addition is it possible that the cat shows signs of malabsorption and malnutrition. The condition is worsened by a high-protein diet and can therefore partly be managed through feeding a low-protein diet.

References

Pubmed ID: 23430934

Year published: 2012

Omia ID: 1776

Omia variant ID:

Turnaround information

  • 15 working days