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Fabry Disease
From WikiMSK
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Fabry disease is a rare progressive X-linked inborn error of metabolism (lysosomal storage disorder). It is caused by deficient ฮฑ-galactosidase A activity which results in the progressive accumulation of glycolipids in various tissues and organs. Severe pain is one of the manifestations of the disease. Depending on enzyme activity the disease can manifest as a child or later as an adult. Enzyme replacement therapy is available.
Resources
Fabry disease - Germain 2010.pdf - 2.21 MB (f)
Fabry Disease - ortiz 2018.pdf - 424 KB (f)
Literature Review
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