Hypouricemia, Hypercalcinuria, And Decreased Bone Density

Sperling et al. (1974) described this combination. Renal clearance of uric acid was greatly increased. Two brothers and a sister were affected, together with 2 grandchildren, products of a first-cousin marriage of obligatory heterozygotes. Hypouricemia occurs with xanthine oxidase deficiency (278300), Wilson disease (277900), and Fanconi renotubular syndrome (134600) and as a primary renal hypouricemia (220150).