Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure

Arch Intern Med. 1993 Mar 22;153(6):767-70.


Homozygous adenine phosphoribosyltransferase deficiency is a genetic defect that is associated with 2,8-dihydroxyadenine urolithiasis. Since the prevalence of the heterozygous state is found in 0.4% to 1.2% of the population, it is surprising that more cases of 2,8-dihydroxyadenine urolithiasis have not been reported. Herein we describe a patient with complete adenine phosphoribosyltransferase deficiency with 2,8-dihydroxyadenine urolithiasis leading to chronic renal failure. Gene sequencing revealed that the patient is a compound heterozygote. One of the mutations (a T insertion between bases 346 and 347) has been encountered before, but the second (a G-to-A substitution at base 1356) has not been previously reported. Possible explanations for the unexpected rarity of 2,8-dihydroxyadenine urolithiasis are discussed.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / metabolism
  • Adenine Phosphoribosyltransferase / deficiency*
  • Heterozygote
  • Humans
  • Kidney / enzymology
  • Kidney / metabolism*
  • Kidney Calculi / enzymology*
  • Kidney Calculi / metabolism
  • Kidney Failure, Chronic / enzymology*
  • Kidney Failure, Chronic / metabolism
  • Male
  • Middle Aged


  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine