Biomarker and clinical data of the family members with GLA-Thr410Ala mutation
| The mutation T410A carrier | The mutation T410A carrier | Son in his 40s | Granddaughter in her 20s | Granddaughter in her 10s | Great grandson under 10 years | Great grandson under 10 years |
| α-Gal A activity | 0.200 nmol/min/mg prot (32%, not on ERT) | 1.0.00 nmol/min/mg prot (0%, not on ERT) 2a. 0,50 mikrokat/ kg prot (2%✶, not on ERT) 2b. 0.610 nkat/l (26.5%✶, not on ERT) 3. 0.4 micromol/l/h (14%, on ERT) | 0.050 nmol/min/mg prot (8%, not on ERT) 3. 0.5 micromol/l/h (18%, not on ERT) | 0.060 nmol/min/mg prot (10%, not on ERT) | 0.00 nmol/min/mg prot (0 %, not on ERT) | 0.00 nmol/min/mg prot (0 %, not on ERT) |
| Lyso-Gb3 | 4.0 ng/mL (on ERT) | 13.1 ng/mL (on ERT) | 5.5 ng/mL (not on ERT) | 4.0 ng/mL (not on ERT) | 20.5 ng/mL (not on ERT) 4,5 ng/mL (on ERT) | 27.7 ng/mL (not on ERT) 7,1 ng/mL (on ERT) |
| ECG, arrhytmias | Atrial fibrillation Non-sustained ventricular tachycardia | Paroxysmal atrial fibrillation non-sustained ventricular tachycardia | First degree AV block Sinus bradycardia | Normal | Normal | Normal |
| Neuropathy | Mild | No | No | ? | Moderate-severe | Moderate-severe |
| Fatigue | Mild | No | Moderate-severe | ? | Mild | Mild |
| Angikeratoma Cornea verticillata | No | No | No | No | No | No |
| Other | Fabry cardiomyopathy Mild microalbuminuria Dementia Stroke | Fabry cardiomyopathy hypertension mild microalbuminuria | Incipient Fabry cardiomyopathy | Rett’s syndrome | ADHD | Gastrointestinal problems Asthma ADHD |
| On ERT | Agalsidase alfa from her 60s | Agalsidase alfa for the first 3 years and then agalsidase beta from his 40s | Agalsidase beta for a short period of time and then migalastate from her 30s | No | Agalsidase beta from under 10 years | Agalsidase beta from under 10 years |
α-Gal A activity (normal 100-200%): measured at baseline in Kuopio University Hospital′s laboratory: leucocyte α-Gal A activity (normal 0.62 nmol/min/mg protein), except measurements of the 2a–2b. Measured in Sahlgrenska University Hospital laboratory in Sweden: 2a: leukocyte α-Gal A activity (normal 28.5 (range 22–36) microkat/kg protein), ✶) of the lowest normal range value, 2b: plasma α-Gal A activity (normal 4.6 (range 2.3–9.9 nkat/l), ✶) of the lowest normal range value and 3: measured 10 years later in ARCHIMEDlife laboratory in Vienna of dried blood spot sample: α-Gal A activity (normal > 2.8 µmol/l/hour), the male patient was on ERT; lyso-Gb3 (normal 0.0–3.5 ng/mL): measured in ARCHIMEDlife laboratory in Vienna of dried blood sample.
ADHD, attention deficit hyperactivity disorder; AV, atrioventricular; ERT, enzyme replacement therapy; i.v., intravenously .