I-Cell Disease with GNPTAB Gene Mutation

I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features 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 GNPTAB gene mutation.

Keywords:

Skeletal anomalies , Mucolipidosis , Mutation , neonate