I-cell disease results in psychomotor retardation, skeletal deformities and death. Which of the following is true regarding this disease?
A) The disease results in inclusion of glycosaminoglycans and glycolipids due the absence of an essential carbohydrate marker that directs the lysosomal hydrolases to the lysosome.
B) The disease results in inclusion of glycolipids due mutations in the lysosomal hydrolases that render them inactive.
C) The disease results in increased expression of SNARE proteins that result in vesicle fusion and exchange of glycosaminoglycans.
D) The disease results from the lack of KDEL sequences which would normally signal their return to the ER following Golgi processing.
E) All of the above are true.
Answer: A) The disease results in inclusion of glycosaminoglycans and glycolipids due the absence of an essential carbohydrate marker that directs the lysosomal hydrolases to the lysosome.
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