Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

Adolescent Adult Anemia, Megaloblastic/genetics Child Child, Preschool Chromosome Mapping Erythrocytes/enzymology Genes Genetic Linkage Humans Hypoxanthine Phosphoribosyltransferase/analysis,deficiency Infant Infant, Newborn Lesch-Nyhan Syndrome/diagnosis,enzymology,genetics Male Mutation Pedigree Phenotype Phosphoribosyl Pyrophosphate/metabolism Prenatal Diagnosis Self Mutilation/genetics Sex Chromosomes Uric Acid/metabolism

Uric Acid Phosphoribosyl Pyrophosphate Hypoxanthine Phosphoribosyltransferase