Professor Anna Tylki-Szymanska, 30 years in MPS

Professor Anna Tylki-Sysmanska has been working in the diagnosis and management of MPS II and LSDs for 30 years. While by her own account she was at first challenged by this assignation, she is now convinced of how fascinating, valuable and rewarding her career in this field has been. She exclusively discusses her career and gives her advice and inspiration to the new generations of MPS II physicians. Watch her emotive and passionate interview here:

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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C-ANPROM/INT//5078 May 2019

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 Professor Anna Tylki-Szymanska, 30 years in MPS канала Hunter Syndrome