What is I-cell disease testing?

Also known as: mucolipidosis II, ML II, Inclusion Cell Disease.

I-cell disease is a rare genetic disorder also known as mucolipidosis II (ML II). It causes symptoms such as skeletal abnormalities, rough facial features, mental disabilities, death usually occurs in childhood. Biochemical testing for I-cell disease involves the collection and analysis of plasma and urine. The activity of certain enzymes is increased when I-cell disease is present.

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Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM