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 language | English (US) |
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Pages (from-to) | 385-389 |
Number of pages | 5 |
Journal | The Journal of pediatrics |
Volume | 92 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1978 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health