I-cell disease (also known as inclusion cell disease) is a type of lysosomal storage disease caused by a defect in N-acetylglucosamine-1-phosphate transferase resulting in the failure of the Golgi apparatus to transfer phosphate to mannose residues on specific proteins.

Clinical features

• coarse facial features (similar to Hurler syndrome)
• restricted joint movement
• clouding of the cornea
• hepatosplenomegaly