My career in MPS (mucopolysaccharidosis) – with Dr Christina Lampe

As a surgeon, Dr Christina Lampe did not initially intend to work in MPS diagnosis and treatment, but has spent over a decade now focused on just that. She is passionate about this field and, as a world-renowned expert, spoke to us about why improving diagnosis rates is crucial, and how she would like to see young physicians developing as we drive towards improving outcomes in diagnosis and management.

The mucopolysaccharidosis (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 diseases 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 seven 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 to severely affected.(1)

For more information on Hunter syndrome (MPS II), please visit http://www.huntersyndrome.info/

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.

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References:
1. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72.

Видео My career in MPS (mucopolysaccharidosis) – with Dr Christina Lampe канала Hunter Syndrome