Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
D000619:Aminohydrolases / Q000378:metabolism*; D001923:Brain Chemistry; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D006017:Glycolipids / Q000032:analysis; D006595:Hexosamines / Q000378:metabolism*; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008064:Lipidoses / Q000150:complications / Q000201:enzymology*; D008297:Male
D006017:Glycolipids; D006595:Hexosamines; D000619:Aminohydrolases