Adenine phosphoribosyltransferase deficiency

A rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

Crystalluria

The presence of crystals in the urine.


Total: 3

                       


(per page)
PMID (PMCID)
20303634
 FEMALE
Decreased kidney function and crystal deposition in the tubules after kidney transplant.
Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, Ceballos-Picot I, Bollee G, Daudon M.
Am J Kidney Dis. 2010;56(3):585-90.
Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive purine enzyme defect that results in the inability to utilize adenine, which consequently is oxidized by xanthine dehydrogenase to 2, 8-dihydroxyadenine (2,8-DHA), an extremely insoluble substance eventually leading to crystalluria, nephrolithiasis, and kidney injury.
20101413
 MIXED_SAMPLE Infant
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S.
Pediatr Nephrol. 2010;25(6):1173-6.
Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*.
20101413
 MIXED_SAMPLE Infant
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S.
Pediatr Nephrol. 2010;25(6):1173-6.
Adenine phosphoribosyltransferase deficiency is a disorder in which 2, 8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT).