Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review

• Main Authors: Jeng-Dau Tsai (Author), Shan-Ming Chen (Author), Chien-Heng Lin (Author), Min-Sho Ku (Author), Teng-Fu Tsao (Author), Ji-Nan Sheu (Author)
• Format: Book
• Published: Elsevier, 2014-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations. The diagnosis of Lesch-Nyhan syndrome (LNS) is frequently delayed until self-mutilation becomes evident. We report the case...