Mucolipidosis I

A type of mucolipidosis (see below) characterized by deficiency of the enzyme neuraminidase (sialidase).

There are two forms of the disease.

One form is characterized by cherry red spots in the eyes, gradual loss of vision, progressive debilitating myoclonus (muscle spasms), and normal intelligence.

The other form of the disease, in addition, causes a coarse face, bony abnormalities.

And sometimes early death.

Also called sialidosis.

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.