Summary of patients reported with GCS deficiency
| Patient no. . | Sex/age when investigated . | B-Hb g/L . | Retic % . | Ery-GSH % of normal mean . | Ery-GCS activity % of normal mean . | Reference . |
|---|---|---|---|---|---|---|
| 1 | Male 35-40 y | 132 | 8.6 | 3.1 | 13 | 7, 8 |
| 2 | Female 35-40 y | 118 | 10.3 | 2 | 9 | 7, 8 |
| 3 | Female 22 y | hematocrit 28-38% | 11.5 | 11 | 6 | 9 |
| 4 | Male 15 y | 120 | 6.8 | 4.4 | 6 | 10 |
| 5 | Female 17 y | 102 | 6.6 | 13 | 23 | 10 |
| 6 | Female 14 y | 119 | 4.9 | 3 | 10 | 11 |
| 7 | Female 68 y | 70 | 6 | < 1 | < 2 | 12; patient 1:2 in this report |
| 8 | Male 11 y | ND | ND | 1.5 | < 1 | patient 3:10 in this report |
| Patient no. . | Sex/age when investigated . | B-Hb g/L . | Retic % . | Ery-GSH % of normal mean . | Ery-GCS activity % of normal mean . | Reference . |
|---|---|---|---|---|---|---|
| 1 | Male 35-40 y | 132 | 8.6 | 3.1 | 13 | 7, 8 |
| 2 | Female 35-40 y | 118 | 10.3 | 2 | 9 | 7, 8 |
| 3 | Female 22 y | hematocrit 28-38% | 11.5 | 11 | 6 | 9 |
| 4 | Male 15 y | 120 | 6.8 | 4.4 | 6 | 10 |
| 5 | Female 17 y | 102 | 6.6 | 13 | 23 | 10 |
| 6 | Female 14 y | 119 | 4.9 | 3 | 10 | 11 |
| 7 | Female 68 y | 70 | 6 | < 1 | < 2 | 12; patient 1:2 in this report |
| 8 | Male 11 y | ND | ND | 1.5 | < 1 | patient 3:10 in this report |
B-Hb indicates blood-hemoglobin; Ery-GSH, erythrocyte glutathione; Ery-GCS, erythrocyte γ-glutamylcysteine synthetase; ND, not determined; Retic, reticulocyte.