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Dihydropyminidase (DHP) is an enzyme involved in essential metabolism.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | F2 |
| Mutation | c.1303G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | DHP deficiency |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 23430934
Year published: 2012
Omia ID: 1776
Omia variant ID: 125