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Leschov-Nyhanov syndróm

Subject h.	Leschov-Nyhanov syndróm
Subject h.	Lesch-Nyhan Syndrome
Entry terms	syndróm choreoatetózy, sebazmrzačenia a hyperurikémie choroba z deficitu hypoxantínfosforibozyltransferázy
English X references	Choreoathetosis Self-Mutilation Hyperuricemia Syndrome Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Scope note in English	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 reference (FX) in Slovak	hypoxantínfosforibozyltransferáza
See also reference (FX) in English	Hypoxanthine Phosphoribosyltransferase
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	(1) - MeSH descriptor
	(1) - CiBaMed

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Number of the records: 1