Mucopolysaccharidosis

A group of rare inherited metabolic disorders (see metabolism, inborn errors of) of which Hurler’s syndrome is the best known. All mucopolysaccharidoses are genetic disorders in which there is an abnormality of a specific enzyme. This leads to the accumulation within body cells of substances called mucopolysaccharides. Features may include abnormalities of the skeleton and/or the central nervous system, with learning difficulties and, in some cases, a characteristic facial appearance. There may also be clouding of the cornea, liver enlargement, and joint stiffness. No specific treatment is available. However, a bone marrow transplant may successfully be used to treat Hurler’s syndrome. Mild forms of mucopolysaccharidoses allow a child to have a relatively normal life. More severe types usually cause death during childhood or adolescence.