An unexpected female patient within a classical Lesch-Nyhan family
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چکیده
منابع مشابه
Lesch-Nyhan Syndrome
Alternative names: Historically, Lesch-Nyhan syndrome is the designated term for this disease. Lesch-Nyhan Disease (LND) and hypoxanthine-guanine phosphoribosyl transferase (HPRT, HGprt) deficiency are also used to describe this disease. In addition to the classic form of LND, Jinnah and others have characterized two variant forms of the disorder -these individuals have higher levels of enzyme ...
متن کامل[Lesch-Nyhan syndrome].
LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq27 localization chromosomal disorders chromosomal fragility, instability, breakage chromosome breakage syndromes foetal-amniotic biochemical data hypoxanthine-guanine phpsphoribosyltransferase defect (foetal) gene, structural-functional anomalies gene ana...
متن کامل[A case of Lesch-Nyhan syndrome].
Lesch-Nyhan 증후군은 성염색체 열성 유전질환으로, 퓨린 (purine) 대사 과정중 구제 및 재순환에 관여하는 효소인 hypoxanthine-guanine phosphoribosyl transferase(HPRT)의 완 전 결핍으로 인한 고요산혈증, 무도성 무정위운동(choreoathetosis), 연축성(spasticity), 정신지체, 강박적인 자해 행위 등의 임 상 증상들을 특징으로 하는 대사 이상 질환이다 1) . 1964년 Lesch와 Nyhan 1) 에 의해 특징적인 상기 증상을 보인 형제의 증례가 처음 보고되었고, 1967년 Seegmiller 등 2) 에 의하 여 이 병의 원인이 효소 HPRT의 완전 결핍으로 인한 것임이 밝혀졌다. 이후 분자유전학 기술의 발달로 HPRT 유전자가...
متن کاملLesch-Nyhan syndrome: a treatment planning dilemma.
The characteristic self-mutilation behaviors of patients with Lescl~Nyhan syndrome are detailed. The behavorial manifestations and dental management of five cases are discussed with emphasis on the lack of viable treatment choices other than extraction. Some suggestions for categorizing the mutilative behaviors have been presented together with possible treatment choices of each group. Lesch-Ny...
متن کاملProton MR spectroscopy in Lesch-Nyhan disease.
In vivo proton spectra for four patients with Lesch-Nyhan disease and four control subjects matched for age and sex were acquired from voxels (1.5 x 1.5 x 1.5 cm3) placed in the prefrontal cortex and striatum. The patients with Lesch-Nyhan disease had decreased metabolites, especially N-acetylaspartate and glutamate/glutamine, only in the prefrontal cortex as compared with the control group. Th...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200001000-00192