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)
					Follow-up
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)

*Younger sibling of the juvenile-onset patient NBSL9a.

**this specimen was not suitable for immunostaining; autofluorescent inclusions were detected in unstained fibers.