Lesch-Nyhan Syndrome
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چکیده
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 activity than patients with the classic form and do not have the feature of self-injurious behavior. Elevated levels of uric acid is present is all three types of LND.
منابع مشابه
Inosinic Acid Dehydrogenase Activity
ated in normal subjects and in patients with the LeschNyhan syndrome. A significant difference in activity was found between erythrocytes derived from normal controls (1.21±0.47 pmoles/hr per mg protein) and from 15 patients with the Lesch-Nyhan syndrome (6.72 ±6.23 pmoles/hr per mg protein). However, no difference in activity was demonstrable in muscle or leukocytes derived from normal and Les...
متن کاملTreatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen
Current therapies for the Lesch-Nyhan Syndrome (OMIM: 300322) are off-label and experimental, often leading to inconsistent outcomes. We here report the effects of an intrathecal baclofen therapy, carried out at the Scientific Institute Eugenio Medea (Lecco, Italy), on three patients who no longer received benefit from previous therapies. This treatment, as expected, ameliorated the motor sympt...
متن کاملLesch-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...
متن کاملLesch-Nyhan syndrome: evidence for abnormal adrenergic function.
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 phosphoribosyltran...
متن کاملRapid prenatal diagnosis of the Lesch-Nyhan syndrome.
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syn...
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تاریخ انتشار 2015