MPS Awareness Day – May 15, 2024

History of MPS Awareness Day

Mucopolysaccharidosis (M.P.S.) is a group of metabolic disorders caused by the lack of specific enzymes required to break down sugar carbohydrates that aid in bone, skin, and connective tissue building. Individuals with M.P.S. fail to produce enough enzymes needed to break down these sugar chains into simpler molecules or produce enzymes that do not work properly. This results in permanent damage to cells and affects an individual’s physical appearance, organs, and system functioning.

There are many forms of M.P.S., and their prevalence is estimated to be one in 25,000 births. The first description of the disorder was made in 1917 by Dr. Charles Hunter, who identified M.P.S. Type II. By 1919 Gertrud Hurler identified and described two cases similar to Hunter’s observation, and her findings led to the Hurler and Hunter Syndrome discovery. The diseases were considered to be the same in 1968. In that same year, the Hunter Syndrome was considered a less severe variant of the Hurler syndrome. By 1978, Lorincz released a publication distinguishing both diseases as two separate disorders. It was only in 1968, that the disorders were hypothesized to be due to poor mucopolysaccharide breakdown.

In present times, seven distinct clinical types, and numerous subtypes, of mucopolysaccharidoses have been identified. Although each case of M.P.S. is clinically different, most patients have a period of normal development followed by a decrease in physical or mental function. Depending on the M.P.S. type, individuals may experience cognitive deficits, developmental delays, or severe behavioral issues. Many people suffer from hearing loss, neurosensory damage, or both. Unfortunately, there is no cure for these disorders, the treatment utilized is aimed at improving the individual’s quality of life.