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October 17, 1966

Treatment of X-Linked Primary Hyperuricemia With Allopurinol

Author Affiliations

From the departments of preventive medicine and internal medicine, and the Division of Neurology. School of Medicine, University of Virginia, Charlottesville.

JAMA. 1966;198(3):315-317. doi:10.1001/jama.1966.03110160143049

LESCH AND NYHAN recently described a disorder of uric acid metabolism and central nervous system function in two brothers consisting of hyperuricemia, choreo-athetosis, mental and motor retardation, and self-mutilation.1 Previously, Catel and Schmidt,2 and Riley3 had reported isolated cases conforming to this syndrome. Hoefnagel et al4 reported three additional afflicted males, and postulated that the defective gene for this syndrome might be on the x chromosome. The present authors have recorded a pedigree indicating an x-linked recessive inheritance.5 Since the nomenclature in the literature has varied, we have elected to refer to this syndrome as x-linked primary hyperuricemia (XPH). This terminology seems appropriate in view of what is known about the disease, and separates it from other types of hyperuricemia, including gout.

In the majority of the reported cases, the passage of urate "sand" has been described; and in one autopsied case, renal tubular crystal