Table 1: GLA genetic diagram of family studied.

Patient numberKinshipGender/ageGLA mutationEnzyme activity (nmol/h/spot)

2:2 Grand mother F/84
2:3 Sister of 2:2 F/77 3.1
3:1 Mother F/56 M51I 3.3
3:2 Father M/53 3.5
3:3 Aunt F/53 M51I 2.9
3:5 Cousin of 3:1 M/64 2.3
3:7 Cousin of 3:1 M/58 M51I 0.3
4:1 Proband F/22 M51I 2.6
4:2 Brother M/27 5.5
4:3 Cousin M/28 M51I 0
4:4 Cousin M/25
4:5 Cousin F/21 M51I 2
4:6 Daughter of 3:5 F/24 5.4
4:7 Daughter of 3:7 F/22 M51I 2.4
4:8 Daughter of 3:7 F/25 M51I 0

—, no mutation; F, female; M, male. Normal values of α-Gal-A activity assayed in whole blood are >3 nmol/h/spot.