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Dihydropyminidase (DHP) is an enzyme involved in essential metabolism.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 23430934
Omia ID: 1776