Mucopolysaccharidoses

A group of inherited diseases in which a defective or missing enzyme causes large amounts of sugar molecules to accumulate in the body’s cells and tissues.  Examples are Hunter Syndrome, Hurler Syndrome, and Sanfilippo Syndrome.  The accumulation causes permanent progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and mental development.  Physical symptoms may include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape, thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth.  Depending on the type, individuals may have normal intellect or be profoundly retarded, may experience developmental delay, or have behavioral issues.  Treatment includes dietary manipulation and relieving symptoms.  In 2006, a drug was approved for treating Hunter syndrome.