Lesch-Nyhan Syndrome (definition)

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Lesch-Nyhan Syndrome

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Definition: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

See Also Hypoxanthine Phosphoribosyltransferase

Other names Hypoxanthine-Phosphoribosyl-Transferase Deficiency; Choreoathetosis Self-Mutilation Hyperuricemia Synd; Lesch Nyhan Syndrome; Lesch Nyhan Disease; Hypoxanthine-Phosphoribosyl-Transferase Deficiency; Hypoxanthine Phosphoribosyl Transferase Deficiency; Deficiency Diseases, Hypoxanthine-Phosphoribosyl-T; Deficiency Disease, Hypoxanthine Phosphoribosyl Tr; Choreoathetosis Self Mutilation Hyperuricemia Synd; Lesch-Nyhan Disease; Hypoxanthine Guanine Phosphoribosyltransferase 1 D; HGPRT Deficiency Disease, Complete; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Tr; Deficiency Disease, Complete HGPRT; Complete HGPRT Deficiency Disease

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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