Hypoxanthine guanine phosphoribosyl‐transferase (HGPRT)

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Abstract
Hypoxanthine guanine phosphoribosyl-transferase (HGPRT) and adenosine phosphoribosyl-transferase (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°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°C and 70°C, or in isoelectrofocusing of HGPRT purified by immunoprecipitation. An alteration of the purine metabolic pathway in Tourette syndrome has not been established.