2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus

Am J Hum Genet. 1991 May;48(5):983-9.

Abstract

All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). Here we describe the first case of DHA lithiasis in a patient who has functional APRT activity in cultured lymphoblasts. The patient is heterozygous for Japanese-type (type II) APRT deficiency as demonstrated by starch-gel electrophoresis and DNA sequence analysis. We also demonstrate the use of starch-gel electrophoresis for differentiation between the type II mutant enzyme and the wild-type enzyme.

Publication types

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

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / metabolism
  • Adenine Phosphoribosyltransferase / genetics*
  • Adenine Phosphoribosyltransferase / metabolism
  • Adult
  • Genetic Carrier Screening
  • Heterozygote*
  • Humans
  • Japan
  • Kidney Calculi / chemistry*
  • Lymphocytes / enzymology
  • Male
  • Mutation / genetics
  • Nucleotides / metabolism
  • Polymorphism, Restriction Fragment Length

Substances

  • Nucleotides
  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine