Home > Encyclopedia of Genetic Disorders > Mucopolysaccharidoses

Definition

Mucopolysaccharidosis (MPS) is a general term for a number of inherited diseases that are caused by the accumulation of mucopolysaccharides, resulting in problems with an individual's development. With each condition, mucopolysaccharides accumulate in the cells and tissues of the body because of a deficiency of a specific enzyme. The specific enzyme that is deficient or absent is what distinguishes one type of MPS from another. However, before these enzymes were identified, the MPS disorders were diagnosed by the signs and symptoms that an individual expressed. The discovery of these enzymes resulted in a reclassification of some of the MPS disorders. These conditions are often referred to as MPS I, MPS II, MPS III, MPS IV, MPS VI, MPS VII, and MPS IX. However, these conditions are also referred to by their original names, which are Hurler, Hurler-Scheie,...