The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation |
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Authors: | Reiko Muto Koji Inagaki Noritoshi Kato Shoichi Maruyama Toshiyuki Akahori |
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Affiliation: | 1.Department of Nephrology, Nagoya University Graduate School of Medicine, Japan; 2.Department of Nephrology, Chutoen General Medical Center, Japan |
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Abstract: | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. The accumulation of GL-3 may lead to life-threatening complications. Significant advances in genetic sequencing technology have led to a better understanding of genotype-phenotype interactions in Fabry disease. Fabry disease with an R112H mutation is known as the non-classic type. However, the long-term clinical course of the disease remains unknown. We herein report a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation. |
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Keywords: | Fabry disease R112H mutation GLA non-classic |
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