Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients.
D001921:Brain / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D005964:Glucosyltransferases / Q000172:deficiency*; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008861:Microsomes / Q000201:enzymology*; D009081:Mucolipidoses / Q000201:enzymology*; D013154:Spleen / Q000201:enzymology; D017855:Transferases (Other Substituted Phosphate Groups)
D005964:Glucosyltransferases; D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase; D006026:Glycoside Hydrolases