I-Cell Disease with GNPTAB Gene Mutation

Inclusion-cell (I-cell) disease (mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) gene mutation.