Treatment of x-linked primary hyperuricemia with allopurinol

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Abstract
Uric acid calculi and crystalluria led to severe renal complications in a patient with mental retardation, spastic diplegia, chloreo-athetosis, self-mutilation, andhyperurieemia (1 of 8 affected members in 2 generations). Treatment with allopurinol dramatically reduced the hyperuricemia, with resulting disappearance of crystalluria, and concomitantly increased the excretion of oxypurines. In view of the progressive nature of the neurological disease from birth, early recognition of other cases will permit a trial with allopurinol which should prevent complications resulting from hyperuricemia.

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