Important

It is possible that the main title of the report I Cell Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synoyms

• Leroy Disease
• ML Disorder, Type II
• ML II
• Mucolipidosis II
• GNPTA
• N-Acetylglucosamine-1-Phosphotransferase Deficiency

Disorder Subdivision

None

General Discussion

I-Cell Disease (Mucolipidosis II) is a rare inherited metabolic disorder characterized by multiple enzyme deficiencies (i.e., beta-N-acetylhexosaminidase, arylsulfatase A, iduronate sulfatase, and glycosidases). This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Multiple enzyme deficiencies associated with I-Cell Disease lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.

The symptoms of I-Cell Disease are similar to but more severe than those of Hurler Syndrome. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face, growth delays, and/or mental retardation. I-Cell Disease is inherited as an autosomal recessive genetic trait.