Question

Lysosomes are membranous organelles that contain digestive enzymes. Lysosomes can function inside the cell, where their enzymes digest particles taken in by endocytosis or worn‑out cell components. Lysosomes can also release their enzymes outside the cell, where the enzymes break down extracellular material. I‑cell disease is a lysosomal storage disease that results in the buildup of carbohydrates, lipids, and proteins as inclusion bodies within the cell. Which is the probable cause?

Answer 1

Answer:

I cell disease is caused by a mutation in GNPTA gene that leads to deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase.

Explanation:

I cell disease (mucolipidosis) is a rare inherited lysosomal storage disease that results in the buildup of carbohydrates, lipids, and proteins as inclusion bodies within the cell GlcNAc-1-phosphotransferase catalyzes the N-linked glycosylation of asparagine residues with a molecule called mannose-6-phosphate (M6P). M6P acts as an indicator of whether a hydrolase should be transported to the lysosome or not. Once a hydrolase indicates an M6P, it can be transported to a lysosome. Mutation in this gene causes this disease.