Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome.
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) and adenosine phosphoribosyltransferase (APRT) were examined from 11 individuals with Gilles de la Tourette syndrome, 10 of their first- or second-degree relatives, and 3 normal controls. It has been suggested that in some self-mutilating Tourette patients, HGPRT shows a time-related loss of activity at 4 degrees C, and an unusual isoelectrofocusing pattern. Although 3 patients experienced self-mutilation, no consistent abnormalities were found in the temperature-stability of their HGPRT at 4 degrees C and 70 degrees C, or in isoelectrofocusing of HGPRT purified by immunoprecipitation. An alteration of the purine metabolic pathway in Tourette syndrome has not been established.
D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000302:isolation & purification / Q000378:metabolism*; D007525:Isoelectric Focusing; D008297:Male; D013696:Temperature; D005879:Tourette Syndrome / Q000201:enzymology*
D007041:Hypoxanthine Phosphoribosyltransferase