Oneliner_2204

OneLiner

I-cell disease (ie, bilateral hip dislocation), restricted joint movement, and coarse facial features (ie, bulging, scaphocephalic head with a flat, short nose and bulging neck veins), and corneal clouding are most suggestive of I-cell disease, an inherited lysosomal storage disease. The mechanism of this disease is a defect in N-acetylglucosaminyl-1-phosphotransferase, which plays an important role in cell trafficking by phosphorylating mannose to generate mannose-6-phosphate in the Golgi apparatus.