Subject number | SN 1 | SN 2 | SN 3 | SN 4 | SN 5 | SN 6 | SN 7 | SN 8 | ||||||||
Gender | Male | Male | Male | Male | Male | Male | Male | Male | ||||||||
Diagnosis (age, years) | 12 | 8 | 16 | 35 | 28 | 44 | 46 | 42 | ||||||||
α-GAL activity* % of median for wild-type | 0.0% | 0.0% | 0.0% | 0.0% | 0.0% | 0.3% | 1.1% | 0.0% | ||||||||
GLA mutation c. | c.1235_1236del | c.1024 C>T | c.426C>G | c.658C>T | c.182_183ins | c.137A>G | c.966C>G | c.296_297del | ||||||||
GLA mutation p. | p.Thr412SerfsX37 | p.Arg342X | p.Cys142Trp | p.Arg220X | p.Asp61GlufsX32 | p.His46Arg | p.Asp322Glu | p.Asp101PhefsX21 | ||||||||
ERT duration (months) | 0 | 63 | 0 | 58 | 0 | 48 | 0 | 61 | 0 | 48 | 0 | 96 | 0 | 60 | 0 | 55 |
Serum Gb3 (3.9–9.9 µg/mL) | 11 | 5.2 | 29 | 7 | 9 | 2.5 | 14 | 7.8 | 19 | 5.4 | 13 | 6.9 | 19 | 8.6 | 36 | 6.4 |
Angiokeratoma | (−) | (−) | (−) | (−) | (+) | (+) | (−) | (−) | (+) | (+) | (+) | (+) | (−) | (−) | (+) | (+) |
Cardiac hypertrophy† | (+) | (−) | (−) | (−) | (−) | (−) | (−) | (+) | (−) | (−) | (+) | (+) | (+) | (+) | (+) | (+) |
Sensorineural hearing loss | (−) | (−) | (−) | (−) | (−) | (−) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
Anhidrosis/hypohydrosis | (+) | (+) | (+) | (+) | (+) | (+) | (−) | (−) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
Acroparesthesia | (+) | (+) | (+) | (+) | (+) | (+) | (−) | (−) | (−) | (−) | (−) | (−) | (+) | (+) | (+) | (+) |
Stroke | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) |
eGFR (ml/min/1.73 m2)‡ | 116 | 132 | 126 | 122 | 149 | 132 | 97 | 61 | 118 | 117 | <5 | <5 | 102 | 110 | 74 | 67 |
*Normal range of α-GAL activity in leucocytes, 72.41±34.66 nmol/hour/mg.
†Cardiac hypertrophy was determined by echocardiography, which was defined as left ventricular mass >51 g/m2.7 in men and >48 g/m2.7 in women. Paediatric criteria for left ventricular hypertrophy were used for paediatric patients.44
‡The eGFR was calculated by the Modification of Diet in Renal Disease equation in adults45 and the Schwartz formulation in children.46
eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy.