Patients | Gender | Age at | Manifestations | α-galactosidase A | Lyso-Gb3 | |||
---|---|---|---|---|---|---|---|---|
(RV: ≥2 μmol/l/h) | (RV: ≤1.8 ng/ml) | |||||||
Diagnosis | Acroparesthesia | Cerebrovascular | Cardiac | Renal | ||||
P 1a | M | 41 | + | WMLs, pulvinar sign | Left ventricular hypertrophy | CKD | 0.5 | 33.3 |
2a | F | 51 | + | - | Silent acute coronary syndrome | - | 8.1 | 5,6 |
3a | M | 31 | + | - | - | Proteinuria | 0.66 | 31.1 |
4a | M | 29 | + | - | Atrial fibrillation | - | 2 | / |
5a | M | 23 | + | - | - | - | 2 | 51 |
6a | F | 18 | + | - | - | - | 6.6 | 4.7 |
P 7b | F | 51 | - | Recurrent stroke and WMLs | Left ventricular hypertrophy | CKD | 15.4 | 2.5 |
8b | M | 21 | - | - | - | - | 2 | / |
9b | F | 49 | - | - | - | - | 5.3 | 1.3 |