5-Hydroxytryptophan (5-HTP) treatment of a single case of Lesch-Nyhan syndrome showing compulsive self-mutilation, athetoid movements, and characteristic clinical biochemical picture was studied on a double-blind basis. 5-HTP or placebo was administered for seven fortnightly treatment blocks. 5-HTP produced a significant reduction of athetoid movement and a sedative effect but did not improve t...

Hybridization of mutant cell lines deficient in hypoxanthine-guanine phosphoribosyl transferase (HGPRT; E.C.: 2.4.2.8) from a variety of established rodent sources with HGPRT plus human cells yielded progeny cells which grew in selective medium containing hypoxanthine, aminopterin and thymidine (HAT). The same result was obtained when the human cell used was an HGPRT minus transformed line deri...

[1] According to a recent assessment, it is now possible through medical procedures such as amniocentesis, fetoscopy and ultrasound, to diagnose in utero and with considerable accuracy over 280 abnormalities of pregnancy.1 These abnormalities include a range of fetal genetic disorders (e.g. Down's syndrome, Tay-Sachs disease, Lesch-Nyhan syndrome, spina bifida) which, if left unattended, will r...

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

We have investigated the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient who presented with the Lesch-Nyhan syndrome. A catalytically incompetent form of HPRT has been isolated from this patient's erythrocytes and lymphoblasts. This enzyme variant, which we have termed HPRTKinston, is indistinguishable from the normal enzyme in terms of its intra...