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.
Original language | English |
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Pages (from-to) | 603-607 |
Number of pages | 5 |
Journal | Internal Medicine |
Volume | 58 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2019 |
Keywords
- Anderson-Fabry disease
- Hypertrophic cardiomyopathy
- Renal failure
- ɑ-galactosidase mutant (R301Q)
ASJC Scopus subject areas
- Internal Medicine