A new disorder of purine metabolism with behavioral manifestations

William L. Nyhan, John A. James, Annabel J. Teberg, Lawrence Sweetman, Leslie G. Nelson

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

Abstract

Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life.

Original languageEnglish (US)
Pages (from-to)20-27
Number of pages8
JournalThe Journal of pediatrics
Volume74
Issue number1
DOIs
StatePublished - Jan 1969
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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