Lesch-Nyhan syndrome: evidence for abnormal adrenergic function.
نویسندگان
چکیده
Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma dopamine beta-hydroxylase activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase without self-mutilation do not exhibit these abnormalities of adrenergic function.
منابع مشابه
Lesch-nyhan Syndrome: a Rare Disorder of Self-mutilating Behavior
This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error of purine metabolism presents in infancy with a constellation of mental and developmental retardation, self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basic defect is deficiency in phosphoribosyl transferase production but exact pathomechanism for clin...
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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 کاملHPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
Complete hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other features, by compulsive self-injurious behavior. HPRT-deficient mice generated using mouse embryonic stem cells exhibit none of the behavioral symptoms associated with the Lesch-Nyhan syndrome. Administration of drugs that inhibit adenine p...
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متن کاملDrug-induced Self-biting in Rodents: Implications for the Lesch-nyhan Syndrome
Self-mutilation is a serious clinical problem. In humans selfmutilation is a characteristic of the Lesch-Nyhan syndrome and the de Lange syndrome. Several common drugs have been reported to produce self-biting in animals. The purpose of this project is to begin to de termine whether drug-induced self-biting in animals shares behavioral or biochemical characteristics with self-biting in the Les...
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ورودعنوان ژورنال:
- Science
دوره 186 4167 شماره
صفحات -
تاریخ انتشار 1974