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A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease

✍ Scribed by Dr. Takashi Miyazaki; Mitsuharu Kajita; Sachiko Ohmori; Naoki Mizutani; Toshimitsu Niwa; Yoshiharu Murata; Hisao Seo

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
177 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and genomic sequence containing seven exons (Kornreich et al., 1989) have been characterized. More than 40 mutations have been identified in patients with Fabry disease (

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