Fabry disease in a Japanese population-molecular and biochemical characteristics
نویسندگان
چکیده
منابع مشابه
Biochemical and molecular genetic basis of Fabry disease.
Anderson-Fabry disease (AFD) is an inborn error of glycosphingolipid metabolism that is due to a deficiency of the lysosomal hydrolase -galactosidase A ( -Gal A) (1). It is an X-linked lysosomal storage disorder (LSD) associated with multisystemic involvement resulting from the accumulation of neutral glycosphingolipids (mostly ceramide trihexoside [CTH]) in various organs (2). The disease mani...
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To the Editor, Fabry disease (FD, OMIM 301 500) is an X-linked lysosomal storage disorder caused by an α-galactosidase A enzyme deficiency leading to accumulation of glycosphingolipids. The classical phenotype (no residual enzymatic activity) emerges during childhood and adolescence and includes acroparesthesia, angiokeratoma, hypohidrosis, and gastrointestinal problems. In adults, disease prog...
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Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
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BACKGROUND AND AIMS Fabry's disease (FD) is an X-linked lysosomal disorder caused by a deficiency of the enzyme α-galactosidase A that produces accumulation of glycosphingolipids with clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. We undertook this study to describe the molecular characteristics of the first four Mexican patients with diagnosis of FD w...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2018
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2018.10.004