This week’s podcast is sponsored by Quantoom.International MPS Awareness DayMay is the big month when it comes to awareness - there are almost 100 awareness months, weeks, and days being marked.Some of these are well known conditions. Others, however, are less prominent.International MPS (mucopolysaccharidosis) Awareness Day takes place on May 15.According to the National MPS Society in the U.S., mucopolysaccharidosis (MPS) and mucolipidosis (ML) are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. The missing or insufficient enzyme prevents cells from recycling waste, resulting in the storage of materials in cells throughout the body. As the disease progresses, there is widespread damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system, leading to a shortened lifespan.There are 12 different forms of MPS.For example, MPS I includes Hurler Syndrome, Scheie Syndrome and Hurler-Scheie Syndrome, while MPS II covers Hunter Syndrome.Hurler Syndrome takes its name from Gertrude Hurler, the doctor who described a boy and girl with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about patients who were more mildly affected. Individuals who do not fit the severe or mild ends of the disease were said to have Hurler/Scheie. The specific disease names have been replaced with the designations attenuated (diminished severity) and severe MPS I. MPS I has a wide range of symptoms that vary in severity and can be managed and treated with enzyme replacement therapies. There is no cure for MPS I. Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body. MPS I patients are missing the enzyme alpha-L-iduronidase, which is essential in breaking down the mucopolysaccharides dermatan sulfate and heparan sulfate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.To talk about the disease, treatments, research, and the future prognosis for those with MPS, is Dr Matthew Ellinwood, chief scientific officer at the National MPS Society.