Excessive purine synthesis and neurologic dysfunction in children

✍ Scribed by L. B. Sorensen; F. Kawahara; D. Chow; P. J. Benke; L. Coben

• Publisher: John Wiley and Sons
• Year: 1970
• Tongue: English
• Weight: 671 KB
• Volume: 13
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/art.1780130613

✦ Synopsis

Abstract

Clinical and biochemical features in four boys with neurologic dysfunction and excessive uric acid production are reported. Three boys with the Lesch‐Nyhan syndrome had about 2% of normal activity of HG‐PRTase in red blood cells. On the basis of clinical manifestations and enzyme studies, the fourth patient had a separate biochemical defect. Azathioprine and allopurinol failed to suppress purine biosynthesis in either condition. The children were exquisitely sensitive to the uricogenic effect of 2‐ethylamino‐1,3,4‐thiadiazole. The mother of a boy with Lesch‐Nyhan syndrome had marginally increased glycine‐^14^C incorporation into uric acid, with an isotopic pattern intermediate between those observed in the Lesch‐Nyhan syndrome and in normals.