I-cell disease results in psychomotor retardation,skeletal deformities and death.Which of the following is true regarding this disease?

Question

Quizplus · Accepted Answer

I-cell disease, also known as mucolipidosis II, is caused by the absence of a carbohydrate marker that normally directs lysosomal hydrolases to the lysosome. As a result, these enzymes end up secreted into the extracellular space instead of being delivered to the lysosome, leading to the inclusion of undigested glycosaminoglycans and glycolipids in the cytoplasm of affected cells. This accumulation leads to the symptoms of the disease, which include psychomotor retardation, skeletal deformities, and early death. B, C, and D are incorrect because they do not accurately describe the underlying mechanism of I-cell disease.

I-Cell Disease Results in Psychomotor Retardation,skeletal Deformities and Death