[Lesch-Nyhan syndrome].

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 analysis-DNA analysis HPRT (HPRT1) hypoxanthine phosphoribosyltransferase, gene chr.Xq26q27.2 myelo-erythropoietic disorders megaloblastic anaemia plasma nonprotein-organic constituents, anomalies nucleic acid disorders:purine metabolism, defects urea cycle disorders uric acid, high levels, hyperuricemia Metabolic-neuro-urologic disorder.Clinically normal at birth; before two years onset; progressive choreoathetosis, spastic cerebral palsy, mental retardation, bizarre aggressive behaviour, self-mutilations, usually by biting, hyperuricemia, gout, urinary tract stones. Possibility of abnormalities in carrier: HGPRT assay on hair bulbs; molecular analysis.