Mutations associated with I-cell disease result in which of the following functional defects?
A) incomplete translation of hydrolytic enzymes
B) abnormal secretion of extracellular enzymes
C) rapid degradation of cytosolic hydrolases
D) abnormal targeting of intracellular enzymes

Question

Quizplus · Accepted Answer

Mutations associated with I-cell disease result in abnormal targeting of intracellular enzymes. This is due to a defect in the modification of lysosomal enzymes with mannose-6-phosphate, which is necessary for their targeting to lysosomes. As a result, these enzymes are secreted outside the cell instead of being delivered to lysosomes, leading to the accumulation of undegraded material in the cell.

Mutations Associated with I-Cell Disease Result in Which of the Following