LESCH NYHAN DISEASE
\lˈɛʃ nˈa͡ɪhən dɪzˈiːz], \lˈɛʃ nˈaɪhən dɪzˈiːz], \l_ˈɛ_ʃ n_ˈaɪ_h_ə_n d_ɪ_z_ˈiː_z]\
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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)
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Nearby Words
- les
- les extremes se touchent
- lesage's bacillus
- lesbian
- lesbos
- Lesch Nyhan Disease
- lesch nyhan syndrome
- leschewes
- lescol
- lescot
- lese