57,48 47,50 IVA esclusa

K598

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

Working days 10

Specifiche

Breeds

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

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