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Table 3 Patients identified through newborn screening

From: The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

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)
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)
  1. *Younger sibling of the juvenile-onset patient NBSL9a.
  2. **this specimen was not suitable for immunostaining; autofluorescent inclusions were detected in unstained fibers.