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