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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.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Adenine phosphoribosyltransferase (APRT) on chromosome 5
Variant Detected:
Base Substitution c.260G>A p.Arg87Gln
Mode of Inheritance:
Recomended Screening:
Research Citation(s):