MPS VI Fund
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS VI (MPS 6, also known as Maroteaux-Lamy Syndrome) has a variable range of severe symptoms. While children usually have average intellectual development, they share many of the physical symptoms found in other more severe forms of MPS. These patients may become deaf, have clouding of their cornea, heart and heart valve disease and progressive skeletal changes.