TABLE 2

Summary of Demographics and Baseline Clinical Data for Patients Whose Pompe Disease Was Diagnosed Within the Newborn Screening Program

ParameterNBS1NBS2NBS3NBS4CLIN1CLIN2CLIN3
GenderFemaleFemaleMaleMaleFemaleFemaleMale
Age at diagnosis40 d19 d22 d9 d3.6 mo5.5 mo2.2 mo
Body weight at diagnosis, kg4.433.293.243.536.167.105.79
Age at first infusion14 mo26 d29 d17 d4.2 mo5.8 mo2.9 mo
Chest radiographNormalCardiomegalyCardiomegalyCardiomegalyCardiomegalyCardiomegalyCardiomegaly
ElectrocardiogramNormalVentricular hypertrophyVentricular hypertrophyVentricular hypertrophyVentricular hypertrophyVentricular hypertrophyVentricular hypertrophy
Left ventricular mass index, g/m2a42.7120.0170.0186.0307.5c221.7
Muscle biopsycVacuoles in 80%–85% of myocytesVacuoles in 15%–30% of myocytesVacuoles in 30%–40% of myocytesVacuoles in 90%–95% of myocytescVacuoles in 80%–90% of myocytes
Creatine kinase, U/Lb1019221126597689576985
  • a Reference levels12: 47.4 ± 6.2 g/m2.

  • b Reference levels: 38 to 160 U/L (reference range for creatine kinase in our hospital).

  • c Not tested.