Open Access Case Study Article ID: ACN-5-134

    Malignant hyperthermia in Lesch-Nyhan disease

    William L Nyhan* and Michelle Lucas

    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. 

    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. 


    Published on: May 8, 2019 Pages: 1-2

    Full Text PDF Full Text HTML DOI: 10.17352/acn.000034
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