The absence of activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) is known to be the cause of the Lesch-Nyhan syndrome. Previous methods for detection of heterozygous carriers of this genetic defect either are quite time consuming, require specialized equipment, or lack the necessary sensitivity. We present here a method in which thin-layer chromatography and aut...

Hyperglycinaemia and hyperglycinuria is a relatively new disorder of amino acid metabolism. The first patient with this disease was described by Childs, Nyhan, Borden, Bard, and Cooke in 1961; since then two other cases have been reported (Nyhan, Chisolm, and Edwards, 1963; Cochrane, Scriver, and Krause, 1963). The histories of these cases demonstrate that severe manifestations of the disorder ...

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency of the metabolic enzyme hypozanthine-guanine phosphoribosyltransferase (HPRT). This syndrome presents with abnormal metabolic and neurological manifestations including hyperuricemia, mental retardation*, spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilat...

The early development of self-injurious behaviour in three young boys (aged 17, 25, and 30 months at start of study) with Lesch-Nyhan syndrome was examined by means of parental interviews and by direct observations completed at 3 to 4 monthly intervals over an 18-month period. Results suggest that the self-injury began in a different way from that of other young children with autism and/or deve...

Watts, R. W. E., McKeran, R. O., Brown, E., Andrews, T. M., and Griffiths, M. I. (1974). Archives of Disease in Childhood, 49, 693. Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome. The clinical findings in a previously unreported case of the Lesch-Nyhan syndrome are described. Though formal intellectual testing is very difficult because of the severe choreoathetosis and co...