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Fabry disease

How is it diagnosed?

In males, the most efficient method for the diagnosis of Fabry disease is the demonstration of low α-Gal A activity in blood, and/or cultured skin cells. In females, measurement of α-Gal A activity is unreliable; molecular genetic testing of the gene encoding the α-Gal A enzyme is the most reliable method for identification of females with Fabry disease.

View What are the symptoms? What are the symptoms?  |  How is it treated View How is it treated

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated January 2008 by Dr Derralyn Hughes, Lecturer in Haematology, Royal Free and University College Medical School, London, UK.

 

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