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A boy aged three years with mental retardation, choreoathetosis and failure to thrive had high levels of serum uric acid. There was a family history of renal calculi and mental retardation. Despite the absence of self-mutilation, this case is thought to be an example of the Lesch-Nyhan syndrome and is possibly the first recorded case of this entity in Australia. It is the first case of this entity detected at the Grosvenor Clinic after the screening of 1,900 patients from various centres of New South Wales.
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Bruce Storey (1969) studied this question.
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