Fabry's disease causes
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Fabry's disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fabry's disease causes On the Web |
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American Roentgen Ray Society Images of Fabry's disease causes |
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Risk calculators and risk factors for Fabry's disease causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
- Fabry's disease is caused by a mutation in the GLA gene.
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Fabry's disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
|
Fabry's disease causes On the Web |
|
American Roentgen Ray Society Images of Fabry's disease causes |
|
Risk calculators and risk factors for Fabry's disease 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 build 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]