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- Also known as: anderson-fabry diseaseContent medically reviewed byDr. Juhi Mehrotra
MD, PediatricsView full profile on
LinkedInA rare inherited disease caused by the deficiency of an enzyme called alpha-galactosidase A. It can have varied symptoms such as pain in the hands, feet and specific skin rashes.
Can be dangerous or life threatening if untreated
Treatable by a medical professional
Requires lab test or imaging
Can last several months or years
More common in males
Family history may increase likelihoodSource: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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See all on WikipediaFabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the … See more
Symptoms are typically first experienced in early childhood and can be very difficult to diagnose; the rarity of Fabry disease to many clinicians … See more
Fabry disease is caused by a DNA sequence (gene) that is not functioning as it should. A person who inherits this gene does not have … See more
Fabry disease is suspected based on the individual's clinical presentation, and can be diagnosed by an enzyme assay (usually done on leukocytes) to measure the level of alpha-galactosidase activity. An enzyme assay is not reliable for the diagnosis of … See more
Life expectancy with Fabry disease for males was 58.2 years, compared with 74.7 years in the general population, and for females 75.4 years … See more
Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency … See more
The treatments available for Fabry disease can be divided into therapies that aim to correct the underlying problem of decreased activity of the alpha galactosidase A … See more
Wikipedia text under CC-BY-SA license WebAug 21, 2023 · Fabry disease is a rare genetic disorder that affects the enzyme that breaks down fatty substances. Learn about the types, symptoms, complications and …
Fabry Disease - National Institute of Neurological Disorders and …
WebNov 28, 2023 · Fabry disease is a rare inherited disorder that affects the nervous system, eyes, kidneys, and heart. Learn about its symptoms, causes, treatments, and …
WebJun 6, 2019 · Fabry disease is a rare X-linked disorder of glycolipid metabolism that causes organ damage and early death. Learn about the two subtypes, the genetic …
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WebFabry disease is a genetic disorder that causes fat buildup in the cells and affects many body systems. Learn about the signs, symptoms, inheritance, and complications of this condition, and find additional …
Fabry Disease - StatPearls - NCBI Bookshelf
WebJul 4, 2023 · Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral glycosphingolipids and …
Fabry Disease: The Current Treatment Landscape - PMC
WebMar 15, 2021 · Fabry disease (FD) is an X-linked lysosomal storage disorder based on a deficiency in α-galactosidase A (GLA/AGAL) activity causing a progressive, life …
Living With Fabry Disease? | See If You Qualify Today
AdInvestigational Gene Therapy to Treat Fabry Disease. Complete The Screener Questionnaire and See If You Qualify Now!
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