Differential diagnoses of MPS II, presented by Professor Umut Akyol

Umut Akyol is a professor of Otorhinolaryngology at the Department of Otolaryngology at Hacettepe University in Ankara, Turkey. Professor Akyol is a surgeon who specialises in paediatric otorhinolaryngology. During his career, Professor Akyol has worked to help patients often before they receive their diagnosis of Hunter Syndrome.

In this episode of the MPS Webinar Series, Professor Akyol explores the differential diagnoses of MPS II, from the perspective of an ENT specialist.

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 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.

For more information about upcoming webinars, please visit: //www.huntersyndrome.info/

Takeda Pharmaceutical Company Limited. All rights reserved.

C-ANPROM/INT//7448 March 2020


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.