Abstract
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 Riley 3 had reported isolated cases conforming to this syndrome. Hoefnagel et al 4 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
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