adenine phosphoribosyltransferase deficiency
- adenine phosphoribosyltransferase deficiency
- ad·e·nine phos·pho·ri·bo·syl·trans·fer·ase de·fi·cien·cy (adґə-nēn fos″fo-riґbo-səl-transґfer-ās) an autosomal recessive disorder of purine salvage (gene locus:16q24.3), resulting in accumulation of the insoluble purine 2,8-dihydroxyadenine; clinical signs range from none to nephrolithiasis (causing colic, hematuria, urinary tract infection, and dysuria) to acute renal failure and permanent kidney damage, with greater severity generally correlated with lower residual enzyme activity.
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Adenine phosphoribosyltransferase deficiency — (also called 2,8 dihydroxyadenine urolithiasis) is an autosomal recessivecite journal |pmid=8976113 |year=1996 |month=Dec |author=Kamatani, N |title=Adenine phosphoribosyltransferase(APRT) deficiency |volume=54 |issue=12 |pages=3321–7 |issn=0047… … Wikipedia
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