Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Clinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation
Saori YamamotoTasuku NagasawaKoichiro SugimuraAtuhiro KannoShunsuke TatebeTatsuo AokiHaruka SatoKatsuya KozuRyo KonnoKotaro NochiokaKimio SatoHiroaki Shimokawa
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JOURNALS OPEN ACCESS Advance online publication

Article ID: 0959-18

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Abstract

Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q (G-to-A transition in exon 6 [codon 301] resulting in the replacement of a glutamine with an arginine residue). We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.

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© 2019 by The Japanese Society of Internal Medicine
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