Son of the index with cardiomyopathy | Elder granddaughter with incipient cardiomyopathy | Elder great grandson | Younger great grandson | Reference values | |
Lyso-Gb3 (nM) | 12.6 | 7.7 | 4 | 5.3 | 2.4 |
Lyso-Gb3 (−28) (nM) | 0.4 | 0.2 | 0.1 | 0.2 | nd |
Lyso-Gb3 (−2) (nM) | 3.1 | 1 | 1.1 | 0.7 | 0.9 |
Lyso-Gb3 (+16) (nM) | 1.4 | 0.4 | nd | nd | nd |
Lyso-Gb3 (+18) (nM) | 1.7 | 1 | 0.6 | 0.9 | nd |
Lyso-Gb3 (+34) (nM) | 0.9 | 1 | 0.3 | 0.3 | 0.3 |
Lyso-Gb3 (+50) (nM) | nd | nd | nd | nd | nd |
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.