Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.
A method is described which permits rapid phenotypic diagnosis of the Lesch-Nyhan heterozygote by direct assay of hypoxanthine guanine phosphori-bosyltransferase activity in single hair follicles obtained from the scalp.
D000293:Adolescent; D000328:Adult; D002648:Child; D004796:Clinical Enzyme Tests; D005260:Female; D006197:Hair / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D012535:Scalp; D012652:Self Mutilation / Q000235:genetics*; D014166:Transferases
D014166:Transferases