I-cell disease

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↑


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  • 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↑
  • course facies, developmental delay
  • clouded cornea, restricted joint motion, hepatosplenomegaly
  • plasma lysosomal enzyme↑
  • no golgi mannose-6-P tagging = lysosomal enzymes escape outside cells