Fabry disease - Wikipedia, the free encyclopedia Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause
Fabry Disease - Diseases & Conditions - Medscape Reference Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs and in epithelial and smooth muscle cells. Progressive endothelial accumulation of glycosphingol
Genetics of Fabry Disease - Diseases & Conditions - Medscape Reference Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A (α -Gal A). Most males with no α -Gal A activity develop the classic phenotype of Fabry disease, which affects multiple orga
Fabry disease - Genetics Home Reference Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Charact
Fabry Disease: Read About Life Expectancy and Treatment Read about Fabry disease, a genetic condition with symptoms such as decreased sweating, fever, small, raised reddish-purple blemishes, burning sensations in the hands, and gastrointestinal difficulties. ... Kidney Failure Kidney failure can occur from an
OMIM Entry - # 301500 - FABRY DISEASE - OMIM - Online Mendelian Inheritance in Man 301500 - FABRY DISEASE - ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE ... Contributors:
Fabry Disease - The Doctor's Doctor Fabry disease is a rare X-linked recessive lysosomal storage disease. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-yea
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Fabry disease - RightDiagnosis.com - Right Diagnosis List of disease causes of Fabry disease, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Fabry disease. ... Causes of Fabry disease: The following medical conditions are some of
Treatment of Fabry disease - Evidence-Based Clinical Decision Support at the Point of Care Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaosyl
