Fabry Disease

About Fabry


Fabry Disease, also known as Anderson-Fabry Disease, is closely related to mucopolysaccharidoses and is one of a number of disorders known as lysosomal storage diseases.

Children and adults with Fabry are missing, or are deficient in an enzyme called alpha-galactosidase A which is essential in breaking down certain waste products in the lysosomes of many different types of cell.


The main waste product is ceramide rihexosidase (CTH), also known as globotriaosylceramide, Gb3 or Gl3.

When these waste products are not completely broken down they build up within the cells of the body causing progressive damage. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.

Fabry encompasses a wide spectrum of clinical symptoms which may or may not appear in all individuals with this disease. This, together with the rarity of the disease, often delays diagnosis.


Many individuals may experience some of the symptoms that are outlined here before receiving an actual diagnosis of Fabry.

Fabry Findings

MPS Commercial have produced a series of publications on behalf of the Fabry International Network which present the findings from research carried out in the Fabry community. You can download the first issue releases in summer 2019.

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Events and clinics

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Contact us


Our helpline is open 9-5pm

Monday-Friday: 0345 389 9901

Out of hours support line open 5pm-10pm Monday-Friday and weekends:

07712 653 258 



For available treatment options and the latest news and information on research, therapies and clinical trials please visit our treatment section.

No upcoming events at the moment

My name is Rebecca Brandon and I have been the support worker for Fabry members for the last 10 years. Since joining the society, the Fabry membership has grown and we now have over 450 members.

Because of the way it is inherited, Fabry tends to have a domino affect once one person has been diagnosed. Each person is unique, not everyone has symptoms and some have many.


I wanted to let you know about a few areas of support that we give to the Fabry family membership. We assist with all aspects of life, from talking to employers and schools to education, health, benefits, housing, adaptations and much more. Here I will focus on the main areas that I seem to have more contact about than any other and to try and give some advice but please know that I am always here to help should you need it.

Rebecca's Fabry support info

Remember we are always here to help

We are the only registered charity providing professional support to individuals and families affected by MPS, Fabry or a related disease in the UK.

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© 2019 Society for Mucopolysaccharide Diseases