Professor Umut Akyol: an ENT specialist’s perspective on the diagnosis and management of MPS II

During his career, ENT specialist Professor Umut Akyol has worked to help patients often before they receive their diagnosis of Hunter syndrome (MPS II). Here, Professor Akyol explains the importance of a multidisciplinary approach in the management of MPS II, and shares his perspective on the journey to diagnosis faced by MPS II patients.

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 of an enzyme that is needed to break down a specific type of 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 a different enzyme 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 about 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.

For more videos featuring world-class MPS experts, please visit our channel at:    / @huntersyndromeinfo  

C-ANPROM/INT//7582 April 2020

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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.