2026-04-10T00:13:04Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/acn.000034 2019-05-08 PTZ.ACN:VOL5

Malignant hyperthermia in Lesch-Nyhan disease William L NyhanMichelle Lucas<p>Lesch-Nyhan disease is a heritable disorder of purine metabolism. Inheritance is X-linked and the disease occurs almost exclusively in males. Defective activity of hypoxanthine phosphoribosyltransferase leads to hyperuricemia and increased quantities of uric acid in the urine. All patients may develop urinary calculi, urate nephropathy, tophaceous deposits and clinical gout. Neurologic disability and abnormal aggressive behavior is characteristically self-injurious.&nbsp;</p><p>We report 2 patients with this disease who have been observed to have multiple episodes of hyperthermia which appear to fit the definition of malignant hyperthermia.&nbsp;</p> Archives of Clinical Nephrology - Peertechz Publications 2019-05-08 Case Study https://doi.org/10.17352/acn.000034 en Copyright © William L Nyhan et al.