Lyso-Gb3 and analogue levels in urine of the males with GLA-Thr410Ala mutation
| Son of the index with cardiomyopathy | Elder great grandson | Younger great grandson | Reference values | |
| Lyso-Gb3 (pmol/mmol creat.) | 10 | nd | nd | 0 |
| Lyso-Gb3 (−28) pmol/mmol creat. | 4 | 4 | 6 | 0 |
| Lyso-Gb3 (−12) pmol/mmol creat. | 15 | 19 | 21 | 0 |
| Lyso-Gb3 (−2) pmol/mmol creat. | 6 | 5 | 4 | 0 |
| Lyso-Gb3 (+14) pmol/mmol creat. | 6 | 7 | 5 | 0 |
| Lyso-Gb3 (+16) pmol/mmol creat. | 57 | 44 | 37 | 25 |
| Lyso-Gb3 (+34) pmol/mmol creat. | 16 | 33 | 34 | 20 |
| Lyso-Gb3 (+50) pmol/mmol creat. | 25 | 27 | 26 | 85 |
Note: green values are under the limit of quantification, but over the limit of detection; bold values are over the reverence limit; the patients were treated with enzyme replacement therapy.
nd, not detected.