Počet záznamov: 1
Leschov-Nyhanov syndróm
Č. záznamu d007926 Dátum 06.06.2025 Typ M Tematický termín Leschov-Nyhanov syndróm Iný termín Angličtina (Pseudonym) Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Angličtina (Pseudonym) Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Slovenčina (Pseudonym) syndróm choreoatetózy, sebazmrzačenia a hyperurikémie
Slovenčina (Pseudonym) choroba z deficitu hypoxantínfosforibozyltransferázy
Pozri tiež (Novšie záhlavie) hypoxantínfosforibozyltransferáza
(Skutočné meno) hypoxantínfosforibozyltransferáza
MDT 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 Poznámka 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) 
predmetové heslo
Počet záznamov: 1