AI Article Synopsis
- Fabry disease is a metabolic disorder resulting from a deficiency in the enzyme alpha-Galactosidase A, leading to the accumulation of globotriaosylceramide (Gb3) in various tissues.
- Symptoms usually appear in childhood, including burning sensations in hands and feet, skin lesions, and eye issues, with serious health risks increasing over time.
- Enzyme replacement therapy (ERT) is an effective treatment for managing the disease and improving patient outcomes.
Article Abstract
Fabry disease is an inherited metabolic disease caused by the deficiency of the lysosomal enzyme alpha-Galactosidase A. In consequence, globotriaosylceramide (Gb3) accumulates in nearly all tissues and body fluids. Typically, the disease manifestation is in childhood with acroparaesthesia of burning character in hands and feet. Angioceratoma, cornea verticillata and proteinuria may be found as well at an early stage of the disease. With ongoing age vital organs are increasingly affected. Major causes for death are cerebrovascular events, myocardial infarction, and progressive renal insufficiency. Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease. On the basis of newly diagnosed patients we describe the clinical picture, diagnosis and principles of ERT.
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| http://dx.doi.org/10.1055/s-2004-832484 | DOI Listing |
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