Table 3

Lyso-Gb3 and analogue levels in plasma of the family members with GLA-Thr410Ala mutation

Son of the index with cardiomyopathyElder granddaughter with incipient cardiomyopathyElder great grandsonYounger great grandsonReference values
Lyso-Gb3 (nM)12.67.745.32.4
Lyso-Gb3 (−28) (nM)0.40.20.10.2nd
Lyso-Gb3 (−2) (nM)3.111.10.70.9
Lyso-Gb3 (+16) (nM)1.40.4ndndnd
Lyso-Gb3 (+18) (nM)1.710.60.9nd
Lyso-Gb3 (+34) (nM)0.910.30.30.3
Lyso-Gb3 (+50) (nM)ndndndndnd
  • Note: green values are under the limit of quantification, but over the limit of detection; bold values are over the reverence limit; the males were treated with enzyme replacement therapy.

  • nd, not detected.