A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase

Lawrence Sweetman, Melvin A. Hoch, Bohdan Bakay, Margaret Borden, Phillip Lesh, William L. Nyhan

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

A variant form of hypoxanthine-guanine phosphoribosyl transferase has been found in a neurologically normal pediatric patient who presented with hematuria and episodes of oliguria and azotemia. The level of erythrocyte enzyme activity was 3% of normal. Electrophoretic mobility was more rapid than normal. The Km for hypoxanthine was approximately ten times normal. Immunochemical analysis indicated that the variant enzyme cross reacted with antibody to normal HPRT. A system is described for the systematic characterization of a variant HPRT.

Original languageEnglish (US)
Pages (from-to)385-389
Number of pages5
JournalThe Journal of pediatrics
Volume92
Issue number3
DOIs
StatePublished - Mar 1978
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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