Mucolipidosis IV

Mucolipidosis IV: A type of mucolipidosis due to mutation in the gene encoding mucolipin-1. Most patients have developmental delay and mental retardation, clouding of the cornea of the eye, and severe visual impairment.

The mucolipidoses are a group of storage diseases in which both lipids and substances called mucopolysaccharides accumulate in the tissues of the body. Four different mucolipidoses have been identified. All four are lysosomal disorders -- the lysomes are organelles within the cell containing enzymes that can digest (lyse) substances -- and all are inherited in an autosomal recessive manner.