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Your resource to discover everything about Alpha Mannosidosis

Understanding Alpha Mannosidosis begins here

Characteristics of Alpha Mannosidosis1

immune deficiency

facial and skeletal abnormalities

hearing impairment

intellectual disability

Disease information

Alpha Mannosidosis is a rare Lysosomal Storage Disease (LSD) caused by mutations affecting the alpha-mannosidase lysosomal enzyme. This enzyme is an exoglycosidase…

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Symptoms & diagnosis

Signs and symptoms vary amongst people who have the condition. In general, affected individuals may have intellectual disability, distinctive facial features…

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Symptoms & diagnosis

A diagnosis of Alpha Mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation…

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Disease Management

There is currently no cure for Alpha Mannosidosis, and treatment is often limited to addressing or controlling symptoms.2

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  1. Beck M Olsen KJ, Wraith JE et al. Natural history of alpha-mannosidosis: a longitudinal study. Orphanet J Rare Dis 2013;8:88
  2. Malm D & Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21

The information on this website is intended only to provide knowledge of Alpha Mannosidosis disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice. This website has been produced by Chiesi Pharmaceuticals. The website has been developed in accordance with industry and legal standards to provide information for healthcare professionals and the general public about Alpha Mannosidosis disease health topics. Chiesi Pharmaceuticals makes every reasonable effort to include accurate and current information. However, the information provided in this website is not exhaustive.