Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase

Pediatr Res. 1976 Aug;10(8):762-6. doi: 10.1203/00006450-197608000-00014.

Abstract

In one case of a urinary lithiasis, termed "uric lithiasis" on biochemical examination, the authors describe the symptomatology of a child with a complete deficit in adenine phosphoribosyl transferase. After more intensive investigation the calculi have been found to be composed of a new clinical compound: 2,8-hydroxyadenine.

Publication types

  • Case Reports

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency*
  • Blood Urea Nitrogen
  • Child, Preschool
  • Humans
  • Hydrogen-Ion Concentration
  • Male
  • Pedigree
  • Pentosyltransferases / deficiency*
  • Recurrence
  • Spectrophotometry
  • Uric Acid / blood
  • Urinary Calculi / blood
  • Urinary Calculi / enzymology*
  • Urinary Calculi / genetics
  • Urine / analysis

Substances

  • Uric Acid
  • Pentosyltransferases
  • Adenine Phosphoribosyltransferase