Matthew Ellinwood, DMV, PhD, Chief Scientific Officer at the MPS Society, explains why it is important that most mucopolysaccharidoses (MPSs) be diagnosed early.
The MPSs are a group of inherited lysosomal storage diseases caused by the absence or malfunctioning of enzymes needed to break down glycosaminoglycans, which are long chains of sugar carbohydrates that help build bone, cartilage, tendons, corneas, skin, and connective tissue.
People with a MPSs either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and 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 that affects the individual’s appearance, physical abilities, organ and system functioning, and, in most cases, cognitive development.
As Dr. Ellinwood explains, most MPSs are difficult to diagnose early since early symptoms are often fairly common (ear infections, slight developmental delays) and it is not until the child sees a medical geneticist that a proper diagnosis is often made. For this reason, there is a strong incentive to include MPSs on newborn screening panels.
To learn more about various MPSs, visit our learning center at https://checkrare.com/overview-of-the-mucopolysaccharidoses/
