Dihydropyrimidinase Deficiency
Kodas: K598
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
- 10 working days