Fabry disease
Sign in to saveAlso known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency, Fabry's disease (disorder), alpha galactosidase deficiency, deficiency of melibiase, Hereditary Dystopic Lipidosis
rare human genetic lysosomal storage disorder
Key facts
- Other names
- Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency
- Pronunciation
- / ˈ f ɑː b r i /
- Specialty
- Medical Genetics
- Complications
- Heart failure , abnormal heart rhythms
- Usual onset
- Childhood
- Causes
- Genetic
- Diagnostic method
- Enzyme activity assay, genetic testing
- Differential diagnosis
- Hypertrophic cardiomyopathy
- Treatment
- Enzyme replacement
via Wikipedia infobox
Research
6,730 papers- A Review of Fabry Disease.Skin therapy letter · 2018
- Fabry disease.Journal of echocardiography · 2017
- Fabry disease: where are we now?International urology and nephrology · 2020
- Fabry disease.Handbook of clinical neurology · 2015
- Fabry's Disease.The New England journal of medicine · 2024
via PubMed
~17 min read
Encyclopedic overview
Fabry 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 function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.
Excerpted from Wikipedia’s “Fabry disease” article, available under the CC BY-SA 4.0 licence.