Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fabry's disease causes
Introduction
Causes
Causes
- Fabry’s disease is a genetically X – linked inherited disorder due to a mutation in the GLA gene which is responsible for coding lysosomal enzyme alpha galactosidase A.
- The deficiency of the enzyme leads to a build up of Gb3 (Globotriaosylhexidase) in the lysosomes.
- These accumulations in various tissues leads to classic manifestations of fabry’s disease that include skin, cardiac, renal, and neurological involvement.[1]
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]