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Fabry disease

Background

Fabry disease: Anderson-Fabry disease; Angiokeratoma Corporis Diffusum; Haemorrhagic Nodular Glycolipid Lipidosis

Fabry disease is a rare inherited metabolic disorder. It results from reduced activity of the enzyme alpha-galactosidase (α-Gal A) and progressive accumulation of a fatty substance, globotriaosylceramide (GL-3 or GB-3), in cells throughout the body.

What are the symptoms? View What are the symptoms?

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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