I-cell disease is an AR lysosomal storage disease that results from a defect in N-acetylglucosaminyl-1-phosphotransferase enzymes. This results in the failure of phosphorylation of lysosomal hydrolases, which subsequently leads to their exocytosis from the cell instead of routing to their normal site of action within the lysosome.
submitted by โshak360(21)
I-cell disease is an AR lysosomal storage disease that results from a defect in N-acetylglucosaminyl-1-phosphotransferase enzymes. This results in the failure of phosphorylation of lysosomal hydrolases, which subsequently leads to their exocytosis from the cell instead of routing to their normal site of action within the lysosome.