Table 1. Genetic characterization and plasma levels of Lyso Gb3 assessed in Fabry disease patients.
Patient nr. | Gender | GLA Mutation | Lyso Gb3 ng/mL |
---|---|---|---|
#1 | male | c.103G>C | 28.6 |
#2 | female | c.835C>A | 9 |
#3 | female | c.835C>A | 7.8 |
#4 | female | c.835C>A | 6.9 |
#5 | female | c.779G>A | 9.8 |
#6 | male | c.779G>A | 7.9 |
#7 | mele | c.811G>A | 26 |
#8 | male | c.773G>T | 12 |
#9 | female | c.723dupT | 18 |
#10 | male | c.641C>T | 9 |
Plasma Lyso Gb3 normal levels are: ≤1.8 ng/mL