An introduction to MPS diseases: the basics
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- Опубліковано 7 вер 2024
- Professor Joseph Muenzer discusses the seven clinically distinct mucopolysaccharide (MPS) disorders. This video is an introduction to the major signs and symptoms of the diseases that should be identified to aid diagnosis.
Professor Joseph Muenzer is a professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill, US, shown here speaking at the MPS II Masterclass in Prague 2014.
The mucopolysaccharidoses (MPS) diseases are a group of rare, genetic, metabolic disorders. All MPS diseases are inherited in a recessive pattern, meaning that some people might be carriers of the disease but are unaffected. MPS II is different from the other MPS because its inheritance is X-linked, meaning that males are almost exclusively affected.[1]
People with MPS do not have enough, or any, of an enzyme that is needed to break down a sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and can cause damage to cells.[1]
There are 7 types of MPS disease that each lack different enzymes required to break down GAGs. All of the MPS disorders are progressive, meaning they worsen with time. They are also all heterogeneous, meaning that they can affect different people differently, often resulting in a spectrum of clinical severity from mildly affected to severe.[1]
For more information on Hunter syndrome (MPS II), please visit www.huntersyndr...
The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice.
This video is intended for an international audience outside the United States. This video has been initiated and funded by Shire.
Shire C-ANPROM/INT//1794 December 2017
References:
1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology 2011; 50 Suppl 5: v4-12