An inborn error of purine metabolism, deafness and neurodevelopmental abnormality

Neuropediatrics. 1985 May;16(2):106-8. doi: 10.1055/s-2008-1052552.

Abstract

A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells.

Publication types

  • Case Reports

MeSH terms

  • Deafness / genetics*
  • Erythrocytes / analysis
  • Female
  • Guanosine Triphosphate / blood
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • NAD / blood
  • Purine-Pyrimidine Metabolism, Inborn Errors / blood
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
  • Ribose-Phosphate Pyrophosphokinase / blood
  • Syndrome
  • Uric Acid / blood*
  • X Chromosome

Substances

  • NAD
  • Uric Acid
  • Guanosine Triphosphate
  • Ribose-Phosphate Pyrophosphokinase