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2,8-Dihydroxyadenine Urolithiasis Type IA Overview

2,8-Dihydroxyadenine Urolithiasis Type IA
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Category: Urogenital (Associated with the Urinary and Genital Tracts)

Gene: APRT

Variant Detected: c.260A

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Adenine phosphoribosyltransferase (APRT) is an enzyme involved in the purine salvage pathway, where it catalyzes the conversion of adenine and 5-phosphoribosyl-1-pyrophosphate to adenosine monophosphate [1]. In the absence of APRT, xanthine dehydrogenase (XDH) converts adenine into 2,8-dihydroxyadenine (2,8-DHA), a compound that is highly insoluble in urine. Acute kidney injury may occur from urinary tract obstruction by calculi, and chronic kidney disease is a common sequela caused by crystalline nephropathy. The age of onset varies, with many affected individuals remaining asymptomatic until adulthood.

Research Citation(s): Mol Genet Metab. 2014 Mar; 111(3): 399–403.

Associated Breed(s): Native American Indian Dog,  Mixed Breed,