◔
Fabry Disease: Difference between revisions
From WikiMSK
No edit summary |
mNo edit summary |
||
| Line 1: | Line 1: | ||
{{Stub}} | {{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. | 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 episodic pain crises in the extremities is one of the manifestations of the disease. Depending on enzyme activity the disease can manifest as a child (classic phenotype) or later on even as an adult (atypical and late onset variants). Enzyme replacement therapy is available. | ||
== Resources == | == Resources == | ||
Revision as of 15:54, 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 episodic pain crises in the extremities is one of the manifestations of the disease. Depending on enzyme activity the disease can manifest as a child (classic phenotype) or later on even as an adult (atypical and late onset variants). 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
- Reviews from the last 7 years: review articles, free review articles, systematic reviews, meta-analyses, NCBI Bookshelf
- Articles from all years: PubMed search, Google Scholar search.
- TRIP Database: clinical publications about evidence-based medicine.
- Other Wikis: Radiopaedia, Wikipedia Search, Wikipedia I Feel Lucky, Orthobullets,
