Mucolipidosis III

Mucolipidosis III: A type of mucolipidosis characterized by deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase and features of Hurler syndrome but much slower progression. Also known as pseudo-Hurler polydystrophy.

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.