This day is dedicated to raising awareness of mucopolysaccharidoses (MPS) and related conditions.
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MPS disorders are rare, inherited metabolic disorders that affect between 1 in 100,000 and 1 in 280,000 people, depending on the type. They belong to a family of lysosomal storage disorders.
A missing, deficient, or malfunctioning enzyme affects the body’s ability to break down and recycle specific materials. The inability to break down materials leads to an accumulation of long sugar chains in the cells called complex carbohydrates. As these carbohydrates build up, it causes permanent damage to the cells. This build-up affects physical appearance, physical ability, and, in most cases, intellectual ability, as well as the function of the organs.
There are several types of MPS conditions, depending on which enzyme is deficient or not working correctly. Each one is named after the doctor who first identified them.
MPS I (Hurler, Hurler-Scheie, and Scheie syndromes)
MPS II (Hunter syndrome)
MPS III (Sanfilippo syndrome)
MPS IV (Morquio syndrome)
MPS VI (Maroteaux-Lamy syndrome)
MPS VII (Sly syndrome)
MPS IX (Natowicz)
Each MPS has different symptoms, which may not be present at birth but develop over time. The severity of symptoms can differ greatly, even within each type. For more information on each MPS type, visit the MPS Society. https://mpssociety.org.uk/conditions/mps-conditions
Diagnosing an MPS disorder involves a combination of methods, including clinical examinations, a urine test, and genetic testing. Prenatal testing is also available.
There is no current cure for these conditions. Therapies to replace the missing enzyme, called enzyme replacement therapies (ERT), are available for Hurler/Hurler-Scheie, Hunter, Morquio, Maroteaux-Lamy, and Sly syndrome. ERT slows the progression of these disorders. ERT for Sanfilippo syndrome is still in the clinical trial stage.
Living with these conditions requires immense strength and resilience for the individuals and their caregivers, who are often unsung heroes in this journey.
For anyone who followed the rare disease initiative I ran in February, look up the inspirational stories of David Oulton (published 14th February), who has MPS II (Hunter Syndrome), and Sadie Rae (published 7th February), who has MPS III (Sanfilippo Syndrome).
Sharing these stories may help one person get a diagnosis or access the right support. Be part of someone’s solution.
Sadie Rae: Newsweek 90: “My six-year-old has dementia”: Mom shares daughter’s heart‑breaking story. https://www.newsweek.com/sanfilippo-syndrome-symptoms-cure-treatment-sadie-rae-haywood-1751195
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