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Fabry Disease: Difference between revisions
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Fabry disease is a rare progressive X-linked inborn error of metabolism (lysosomal storage disorder). It is caused by deficient α-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 == | |||
{{Members link}} | |||
{{PDF|Fabry disease - Germain 2010.pdf}} | {{PDF|Fabry disease - Germain 2010.pdf}} | ||
{{PDF|Fabry Disease - ortiz 2018.pdf}} | |||
[https://www.ncbi.nlm.nih.gov/books/NBK1292/ GeneReviews - Fabry Disease] | |||
[[Category:Miscellaneous]] | [[Category:Miscellaneous]] | ||
{{Reliable sources}} | {{Reliable sources}} | ||
Revision as of 15:52, 12 March 2023
This article is a stub.
Fabry disease is a rare progressive X-linked inborn error of metabolism (lysosomal storage disorder). It is caused by deficient α-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
Literature Review
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