Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. Persons affected with this incurable disease are developmentally and physically delayed, and suffer from self-injurious behavior. The most typical feature results in partial or total destruction of perioral tissues. The purpos...

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...

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 ...

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...

Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulti...

Lesch-Nyhan disease is a rare, X-linked disorder, related to defi ciency of the purine salvage enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT). In addition to uric acid overproduction, HPRT defi ciency aff ects motor and cognitive function and is associated with behavioural disturbances caused by unknown pathophysiological changes. Since it was fi rst described, it has been known th...

Thioguanine-resistant T lymphoblast populations were selectively amplified using T cell growth factor in the cultures of peripheral blood T cells from four Lesch-Nyhan heterozygotes. Although Lesch-Nyhan T lymphoblasts were all thioguanine-resistant, none of the cultures from 13 control subjects yielded the growth of such defective cell populations. These data provide direct evidence for the ex...

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...