Table 1.

Baseline characteristics for all patients

Patient No.Sex/Age (yr)ACR (mg/mmol)PCR (mg/mmol)mGFR (ml/min per 1.73 m2)pGL3 (μmol/L)uGL3 (mol/mol)α-Galactosidase A Activity (μkat/kg protein)Mutation
1M/74.828.31067.53.52.40Missense
2M/113.813.01209.31.72.70Truncating
3F/116.0< 0.150 g/L1052.60.316.80Missense
4M/120.599.01038.15.03.80Truncating
5aM/166.411.810711.3a7.4a0.65Truncating
6M/161.310.311213.41.88.60Truncating
7aM/173.010.51129.8a21.6a2.00Truncating
8M/172.68.59991.02.20Missense
9M/1811.828.4964.84.53.30Missense
10M/2313.627.51138.53.62.50Truncating
11M/307.225.18610.28.64.90Truncating
12bM/333.615.411113.1b1.92.30Truncating
  • ACR reference: <2.5 mg/mmol; PCR reference: < 20 mg/mmol; mGFR reference: > 90 ml/min per 1.73 m2; pGL3 reference: 1.6–3.3 μmol/L; uGL3 reference: < 0.6 mol/mol; α-galactosidase A activity (without inhibitor) reference: 17.7–26.4 μkat/kg protein. ACR, albumin-to-creatinine-ratio; PCR, protein-to-creatinine-ratio; pGL3, plasma GL3; uGL3, urine GL3; M, male; F, female.

  • a Patient received agalsidase alfa, 0.2 mg/kg every other week, for 2 years before baseline biopsy; at start of ERT, patient 5 had pGL3 level of 5.1 μmol/L and uGL3 level of 0.73 mol/mol, and patient 7 had pGL3 level of 7.5 μmol/L and uGL3 level of 0.83 mol/mol.

  • b Patient received ERT for 3 years before baseline biopsy (1.5 yr of agalsidase alfa, 0.2 mg/kg every other week, and 1.5 yr of agalsidase alfa, 0.2 mg/kg per week). pGL3 level at start of ERT was 5.9 μmol/L; uGL3 level before start of ERT is not available.