I cell disease

I cell disease

a form of lysosomal disease characterized by progressive mental deterioration, heart disease, and respiratory failure in the first 10 years of life. A number of lysosomal enzymes are lacking, and fibroblasts display numerous coarse inclusions. Also called inclusion cell disease, mucolipidosis II.

I cell disease,

n a congenital disease, also known as
mucolipidosis II. It is characterized by shortness of stature, psychomotor retardation, coarse facial features, and gingival enlargement. The progressive gingival enlargement may delay tooth eruption and may impair closure of the oral cavity.