International MPS Awareness Day: Types, symptoms, causes, and treatment
International MPS Awareness Day is observed every year on May 15. The goal is to make everyone understand how important it is to diagnose Mucopolysaccharidosis type I or MPS early and treat it properly. With correct awareness, it can be diagnosed timely and kept under control or treated properly. Read on as we explore more about its symptoms, causes, and treatment.
Here's what our expert says
Mucopolysaccharidoses are a group of metabolic diseases that are due to genetic mutations that lead to lysosomal storage disorders. They are present at birth and can be identified by checking the lysosomal enzyme α-L-iduronidase (IDUA) and glycosaminoglycan levels. Individuals affected by MPS1 have a large head and cloudy eyes, they get frequent upper and lower respiratory tract infections and suffer from hearing loss.
What is MPS?
MPS refers to a group of metabolic disorders. These conditions occur when the body lacks certain enzymes necessary to break down sugar carbohydrates, which play a crucial role in building bones, skin, and connective tissues. People with MPS either don't produce enough of these enzymes or produce faulty ones. This leads to cell damage, impacting physical appearance, organ function, and overall health and wellness.
What are the different types of MPS?
There are seven distinct clinical types and numerous subtypes of MPS These include Hurler syndrome (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome (MPS III), Morquio syndrome (MPS IV), Maroteaux-Lamy syndrome (MPS VI), and Sly syndrome (MPS VII). While each MPS is unique, most people with MPS initially go through a normal development phase before facing a gradual decline in physical and/or mental abilities.
What causes this disease?
MPS is a condition that you inherit from your parents. If both parents have a nonworking gene related to this condition, there's a one in four chance that their children will have the disease. People with MPS don't produce enough of an enzyme called lysosomal alpha-L-iduronidase, crucial in breaking down sugar molecules. Without it, these molecules build up and harm organs, like the heart.
What are the symptoms?
People with MPS may experience symptoms like soft lumps near their joints that can be painful and swollen. However, the pain usually goes away within three to four days. They may also have mild changes in their face, be shorter than others, and have multiple lumps in their soft tissues. Also, their pelvic X-rays might show some bone erosion.
How is MPS diagnosed and treated?
To diagnose MPS, doctors first perform clinical tests to check for increased mucopolysaccharide levels in urine. Definitive diagnosis requires enzyme assays, which test cells or blood samples for enzyme deficiencies. Approved treatments include enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). These treatments help manage the condition and improve the patient's quality of life.
