Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease).
D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D008607:Intellectual Disability; D011687:Purines / Q000378:metabolism*; D012652:Self Mutilation; D014166:Transferases / Q000032:analysis*
D011687:Purines; D014166:Transferases