1. Serum and urine uric acid
Serum and urine uric acid. Uric acid values were collected from prior case reports and reviews.1, 5, 6, 26–105, 107– 121 Each symbol reflects the value reported for an individual with LND (circle), a neurologic variant without self-injurious behavior (triangle), or a hyperuricemic subject with partial HPRT deficiency (square). Serum values are shown in panel A in mg/dl, where the shaded area depicts 95 percent confidence intervals for the range of normal values (average ± 2 SD), estimated from data collected by Mikkelsen and colleagues from 2987 males of different ages.581 Urinary uric acid to creatinine ratios are shown in panel B, where the 95 percent confidence intervals for normative data were estimated from data collected by Kaufman and colleagues from more than 1500 subjects of different ages.123 The total uric acid excreted in the urine over a 24-h period is shown in panel C. The confidence limits for normal values were obtained from data collected from 24 normal individuals and are not age-adjusted.1, 6, 68
Source: Lesch-Nyhan Disease and Its Variants, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 21, 2017
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