Glycosaminoglycans (Mucopolysaccharides) (GAGS)

General Information

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.

People with a mucopolysaccharidosis disease either do not produce enough of one of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

Diagnosis often can be made through clinical examination and measurement of Glycosaminoglycans in urine. Urine analysis for excessive urinary excretion of glycosaminoglycans is the basis for screening tests for mucopolysaccharidosis. Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) and DNA analysis are also used to provide definitive diagnosis of one of the mucopolysaccharidoses