Table 1.
Screen-positive results identified by newborn screening (NBS) for adrenoleukodystrophy (ALD) in Georgia during the pilot study. PBD: peroxisomal biogenesis disorder.
| Case ID | Birth Weight (g) | Gender | Age (hours) | NBS C24 (nmol/mL) | NBS C26 (nmol/mL) | 2TT C26 (nmol/mL) | 1TT CLIR Score (%ile) | Plasma VLCFA | Outcome |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 610 | Female | 655 | 0.48 | 0.62 | 0.44 | 42 (12) | Normal | Normal |
| 2 | 3765 | Male | 37 | 0.63 | 0.81 | 0.74 | 100 (27) | Normal | Normal |
| 3 | 2478 | Female | 25 | 0.47 | 0.67 | 0.37 | 159 (71) | Normal | Normal |
| 4 | 3175 | Female | 514 | 1.74 | 1.75 | 1.34 | 234 (100) | Normal | Normal |
| 5 | 2535 | Male | 25 | 0.54 | 1.11 | 0.88 | 234 (100) | Abnormal | ALD |
| 6 | 3110 | Female | 24 | 0.45 | 0.58 | 0.44 | 141 (62) | Abnormal | Unresolved |
| 7 | 3770 | Male | 25 | 0.61 | 0.53 | 0.46 | 159 (71) | Normal | Normal |
| 8 | 2860 | Female | 26 | 0.70 | 0.78 | 0.60 | 234 (100) | Normal | Normal |
| 9 | 2970 | Male | 2 | 0.57 | 1.08 | 0.83 | 227 (89) | Normal | Normal |
| 10 | 2730 | Female | 36 | 0.32 | 0.91 | 1.00 | 114 (41) | Abnormal | PBD |
| 11 | 2740 | Female | 10 | 0.38 | 1.22 | 1.13 | 114 (41) | Abnormal | PBD |