Table 3 Patients identified through newborn screening
Patient ID | Onset, diagnosis (Age) | ERT start (Age) | Biopsy site; time on ERT | Pathology/% fibers with lipofuscin inclusions Pretreatment | Pathology/% fibers with lipofuscin inclusions | Clinical status (Current age) |
|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Â | Follow-up | Â |
NBSL2 | 36 mo, ~12 d | 3 y | Quad; baseline | Mild lysosomal expansion; autophagic accumulation and inclusions in ~85% of fibers | NA | Less endurance (5.9 y) |
NBSL6 | 34 mo, ~9 d | 2.8 y | Quad; 6 mo | NA | Normal biopsy | In preschool, no difficulties (5.2 y) |
NBSL9* | 1.5 mo, 14 d | 1.5 mo | Quad; baseline & 6 mo | Autophagic accumulation in 12.5% of fibers; inclusions are in < 1% fibers | Mild lysosomal expansion in ~15% of fibers | Can jump on one foot (4.7 y) |
NBSL15 | 2.8 mo, ~3 d | 2.8 mo | Quad; baseline & 6 mo | **Inclusions in ~10% of fibers | Mild-to-moderate lysosomal expansion in 10% of fibers; autophagic accumulation in ~15% of fibers; many normal fibers | Runs quickly, can jump using two feet (2.5 y) |
NBSL16 | 4.5 mo, ~3 d | 4.5 mo | Quad; baseline & 7 mo | Mild-to-moderate lysosomal expansion; autophagic accumulation with inclusions in ~10% of fibers | Normal biopsy | Runs quickly; can jump using two feet (2.1 y) |