Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation.
D000225:Adenine / Q000378:metabolism; D000493:Allopurinol / Q000627:therapeutic use; D001264:Athetosis / Q000150:complications*; D002675:Child, Preschool; D004035:Diet Therapy; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology / Q000628:therapy / Q000652:urine; D009711:Nucleotides / Q000378:metabolism; D011596:Psychomotor Disorders / Q000150:complications*; D011687:Purines / Q000096:biosynthesis; D012652:Self Mutilation / Q000150:complications*; D012730:Sex Chromosomes; D014166:Transferases / Q000378:metabolism; D014527:Uric Acid / Q000032:analysis / Q000097:blood
D009711:Nucleotides; D011687:Purines; D014527:Uric Acid; D000493:Allopurinol; D014166:Transferases; D000225:Adenine