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Leschov-Nyhanov syndróm
Record number d007926 Date 06.06.2025 Type M Topical term Leschov-Nyhanov syndróm Other term English (Pseudonym) Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
English (Pseudonym) Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Slovak (Pseudonym) syndróm choreoatetózy, sebazmrzačenia a hyperurikémie
Slovak (Pseudonym) choroba z deficitu hypoxantínfosforibozyltransferázy
See also (Later heading) hypoxantínfosforibozyltransferáza
(Skutočné meno) hypoxantínfosforibozyltransferáza
UDC C10.228.140.163.100.425C10.597.606.360.455.625C16.320.322.500.625C16.320.400.525.625C16.320.565.189.425C16.320.565.798.594C18.452.132.100.425C18.452.648.189.425C18.452.648.798.594 Note 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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Number of the records: 1