I-cell disease: course facies, dev delay, clouded cornea, restricted joint motion, due to lack of golgi mannose-6-P tagging, dx w plasma lysosomal enzyme↑
I-cell disease
aka: Inclusion cell disease, Mucolipidosis II,
course facies, dev delay, clouded cornea, restricted joint motion, due to lack of golgi mannose-6-P tagging, dx w plasma lysosomal enzyme↑