BONE MARROW TRANSPLANTATION IN LESCH-NYHAN DISEASE: 147
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چکیده
منابع مشابه
Proton 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...
متن کاملDopamine function in Lesch-Nyhan disease.
Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor...
متن کاملSelf-injury in Lesch-Nyhan disease.
UNLABELLED Parents of 40 patients with Lesch-Nyhan disease completed a questionnaire detailing developmental history, life course, management, medication, factors influencing variability and topography of self-injury. Several conclusions were reached. Characteristics: Biting was the predominant form, perhaps only because of the difficulty of preventing it. There was considerable variability in ...
متن کاملAttenuated variants of Lesch-Nyhan disease
Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the classic disease, variant forms of the disease occur...
متن کاملLesch-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 ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198507000-00167