My career in MPS (mucopolysaccharidosis) – with Professor Roberto Giugliani

Listen to expert geneticist Professor Roberto Giugliani share touching personal stories from his 40+ year career specialising in rare metabolic disorders. Here he focuses on some of his most memorable MPS diseases cases and shares advice to physicians starting out in the field. Roberto Giugliani is a professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas in Porto Alegre, Brazil.

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.

Takeda Pharmaceutical Company Limited. All rights reserved.
C-ANPROM/INT//4711 February 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.