Table 1

Biomarker and clinical data of the family members with GLA-Thr410Ala mutation

The mutation T410A carrierThe mutation T410A carrierSon in his 40sGranddaughter in her 20sGranddaughter in her 10sGreat grandson under 10 yearsGreat grandson under 10 years
α-Gal A activity0.200 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-Gb34.0 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, arrhytmiasAtrial fibrillation Non-sustained ventricular tachycardiaParoxysmal atrial fibrillation non-sustained ventricular tachycardiaFirst degree AV block Sinus bradycardiaNormalNormalNormal
Angikeratoma Cornea verticillataNoNoNoNoNoNo
OtherFabry cardiomyopathy Mild microalbuminuria
Dementia Stroke
Fabry cardiomyopathy hypertension mild microalbuminuriaIncipient Fabry cardiomyopathyRett’s syndromeADHDGastrointestinal problems Asthma
On ERTAgalsidase alfa from her 60sAgalsidase alfa for the first 3 years and then agalsidase beta from his 40sAgalsidase beta for a short period of time and then migalastate from her 30sNoAgalsidase beta from under 10 yearsAgalsidase 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 .