Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism : Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout - 07/10/17
Abstract |
The ratio of uric acid to creatinine (UA/C) in morning samples of urine provides a screening test for detection of the syndrome of choreoathetosis, mental retardation, self-mutilation, and hyperuricemia (Lesch-Nyhan syndrome) which is associated with virtually complete absence of activity of the enzyme phosphoribosyltransferase (PRT). This same ratio can be used on 24 hour urine samples from adult patients with gout for detection of patients with partial deficiency of the same enzyme. Data concerning UA/C from over 1,500 subjects are presented. Normal mean UA/C is 1.55 in the first week of life and declines to 0.61 at age 10. Mean for adults on normal diets is 0.49. Thirteen children with Lesch-Nyhan syndrome had a mean UA/C of 3.19, and 8 patients with gout and partial deficiency of PRT had mean UA/C of 1.06. Correlations of the ratio with age, sex, diet, and time of day, and values of UA/C in patients with gout and other disorders of purine metabolism are presented and discussed.
Le texte complet de cet article est disponible en PDF.| † | Supported in part by the Maryland State Department of Health, Summer Program for Medical Students. |
Vol 73 - N° 4
P. 583-592 - octobre 1968 Retour au numéro
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- Richard M. Doughten, Howard A. Pearson
- Abnormally small head size and intellect in children
- Helen B. Pryor, Hulda Thelander
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