All the following are characteristic of I-cell disease except
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
Coarse facial features
Corneal clouding
Failure to thrive
Buphthalmos
Structure and function of protein