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Dihydropyminidase (DHP) is an enzyme involved in essential metabolism.
Working days 10
Specifiche
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informazioni generali
Dihydropyminidase (DHP) is an enzyme involved in essential metabolism. A defect in the DPYS gene, which forms DHP, results in DHP Deficiency, a disease which causes malnutrition, depression and vomiting, particularly while on a high-protein diet. The recessive mutation causing this specific version of the disorder, discovered in a Japanese cat, is extremely rare and is believed by researchers to have arisen in the early 2000s.
Caratteristiche cliniche
Affected cats show lethargy, depression and vomiting. Urine analysis shows high levels of uracil and thymine in the urine.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 23430934
Omia ID: 1776