Fabry disease

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system.  Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease.

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