All the following are characteristic of I-cell disease except: (A) Coarse facial features, (B) Corneal clouding, (C) Failure to thrive, (D) Buphthalmos
Answer is D. Buphthalmos is not a feature of I- cell disease. It is an inherited lysosomal storage disorder Defect in N-acetylglucosaminyl-1-phosphotransferase. Failure of the Golgi to phosphorylate mannose residues on glycoproteins It is characterized by the following: coarse facial features Gingival hyperplasia clouded corneas Restricted joint movements Claw hand deformities Kyphoscoliosis High plasma levels of lysosomal enzymes