Fabry disease is a lysosomal storage disorder that is very rare and passed down genetically at birth. Fabry disease results in a lack of alpha-galactosidase A. It was first discovered in 1898 and affects 1 in around 40,000 to 60,000 males. This disease can affect all races and ethnicity, but tends to affect more males than females. Some of the symptoms include gastrointestinal problems, dark red spots on skin, hydrolysis, and many others. Fabry disease is often misdiagnosed based on these symptoms without doing any tests. To test for Fabry disease, laboratory tests are done to measure the amount of alpha-GAL activity in the blood. Although there are currently no treatments, there is research being done on two potential treatments. Fabry disease get worse over time and may lead to life threatening illnesses.
Works Cited Cell. Malaysia Lysosomal Diseases Association, mymlda.com/article.php?aid=53. Accessed 6 Feb. 2017. "Fabry Disease." Genetics Home Reference, 31 Jan. 2017, ghr.nlm.nih.gov/condition/fabry-disease. Accessed 4 Feb. 2017. Fabry Disease Symptoms. Disease Zoom, diseaseszoom.com/fabry-disease-pictures-symptoms-diagnosis-treatment/. Accessed 5 Feb. 2017. "What Is Fabry Disease." FSIG, www.fabry.org/fsig.nsf/pages/fabry. "What Is Fabry Disease?" YouTube, 15 Mar. 2016, www.youtube.com/watch?v=RzeMbvv98A4. Accessed 5 Feb. 2017.