Clinical and biochemical observations on a patient with the Lesch-Nyhan syndrome
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The first case in Ireland of the Lesch-Nyhan syndrome is reported. Less than 200 are known worldwide. The clinical and biochemical presentations of this patient are classical. His hyperuricaemia is being controlled satisfactorily by allopurinol, his general health being thus maintained as well as his neurological condition allows. Gouty arthritis and tophaceous deposition of urate have been prevented to date. Pharmacological treatments of his various neurological and behavioural abnormalities have not been successful.
KeywordsUric Acid Allopurinol Serum Uric Acid Gouty Arthritis Central Nervous System Function
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- Kelley, W. N. and Wyngaarden, J. B. 1972. The Lesch-Nyhan syndrome.In The Metabolic Basis of Inherited Disease, ed. by J. B. Stanbury, J. B. Wyngaarden and D. S. Fredrickson. New York. McGraw-Hill. p. 969.Google Scholar