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Table 1 Clinical characteristics and laboratory findings of 6 adult Pompe patients

From: Glycogenosome accumulation in the arrector pili muscle in Pompe disease

  P1 P2a P3a P4b P5b P6
Sex Female Female Female Male Female Male
Age (year) 22 53 50 47 56 63
Durations of symptoms in years 12 27 24 10 16 11
Duration of ERT in months 24 0 0 0 (19) 0 (20) 12
GAA genotype c.-45 T > G*; IVS9-1G > C c.-45 T > G; IVS16 + 102_IVS17 + 31 c.-45 T > G; IVS16 + 102_IVS17 + 31 c.307 T > G; c.1478C > T c.307 T > G; c.1478C > T c.-45 T > G: c.925G > A
6 minute walk test (m) 510 130 430 450 420 120
Walking aids No Yes No No No Yes
Walton Gardner Medwin Scalec 3 6 2 4 3 6
Slow Vital capacity (%) 60 56 96 91 73 44
α-glucosidase activity       
At pH 3.8 0.59 0.36 1.06 1.17 0.72 1.58
With inhibition (dry blood spot test**) 0.14 0.17 0.39 0.32 0.05 0.18
  1. aSiblings.
  2. bSiblings.
  3. cThe Walton-Gardner-Medwin Scale (WGMS) is a 10-item scale to asses the degree of walking disability (0 normal walking, 7 wheelchair bound).
  4. In brackets is the duration of ERT in months at the time of the second biopsy.
  5. ERT enzyme replacement therapy, GAA acid α-glucosidase,
  6. *c.-45 T > G stands for c.-32-13 T > G.
  7. **Normal range of α-glucosidase acitivity at pH 3.8: 1.5 – 10.0 nmol/spot*21 hours; with inhibition: 0.9-7.2 nmol/spot*21 hours.