Fabry Disease: from Molecular Diagnosis to Enzyme Therapy
نویسنده
چکیده
Fabry disease is a rare genetic disease due to a deficiency of the lysosomal hydrolase αgalactosidase A (α-Gal A) [1]. The recent advance of knowledge in Fabry disease can be applied to other lysosomal diseases and enhance our understanding in the pathogenesis and management of those once considered miserable and untreatable diseases. Unlike other lysosomal diseases, Fabry disease involves multiple organ systems and may have an onset at a wide range of age [2], therefore, it may be encountered by a variety of medical professionals, such as:
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Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
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Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular, and end-stage renal disease, diagnosis is often delayed or missed. This paper reviews the key signs and symptoms of Fabry disease and provides expert recommendations for diagnosis, follow-up, medical manageme...
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