Mucopolysaccharidoses (MPS)

The Mucopolysaccharidoses (MPS) topic includes research on the genetics, diagnosis, and treatment of MPS, a group of rare genetic metabolic diseases.

Glycosaminoglycans, which are mucopolysaccharides, are chains of carbohydrates that build bone, cartilage, tendons, corneas, skin, and connective tissue, as well as the fluid that lubricates the body’s joints. MPS is the result of a malfunction in, or lack of, the lysosomes or enzymes required to break down the glycosaminoglycans. Buildup of glycosaminoglycans in the blood, brain, spinal cord, and connective tissues can result in progressive, permanent damage to organs, systems, and appearance, as well as cognitive development. 

There are seven distinct types of MPS, with multiple subtypes and a wide range of severity; many symptoms are common among them. Some MPS symptoms may be recognized at birth, and others become visible and more pronounced with time. Physical symptoms commonly include short stature, abnormal bone size or shape, thickened skin, enlarged liver or spleen, heart disease, or recurring respiratory infections, among other things. Socioemotional implications are common, due to brain and nervous system involvement. Some affected persons will have profound intellectual disabilities and others will have more mild. Hyperactivity and depression are fairly common. Speech, hearing, and vision problems are also common.