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What are the best tests to use for Fabry Disease?

Fabry disease is a rare genetic disorder characterized by alpha-galactosidase A deficiency which leads to a buildup of an unused substrate (e.g., glycosphingolipids) and associated organ damage. Gastrointestinal involvement can be significant due to compromised absorption and increased inflammation. The disease causes a variety of symptoms including non-specific gastrointestinal symptoms including nausea, vomiting, pain, and diarrhea.

Eye and skin symptoms are often manifestations as well.

Specialty testing may include genetic testing and measurement of alpha-galactosidase A activity and substrate accumulation.

Unfortunately, the software does not address Fabry Disease specifically, though a functional blood chemistry analysis can help evaluate and monitor organ and metabolic function.


Gal, Andreas et al. “Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.” Journal of inherited metabolic disease vol. 34,2 (2011): 509-14.

Hilz, Max J et al. “Non-specific gastrointestinal features: Could it be Fabry disease?.” Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver vol. 50,5 (2018): 429-437.

Miller, James J et al. “Progress in the understanding and treatment of Fabry disease.” Biochimica et biophysica acta. General subjects vol. 1864,1 (2020): 129437.