title: Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome.
abstract: 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.
mesh_terms: D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000302:isolation & purification / Q000378:metabolism*; D007525:Isoelectric Focusing; D008297:Male; D013696:Temperature; D005879:Tourette Syndrome / Q000201:enzymology*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase