Table 1.
Clinical characteristics of FD patients
| Characteristic (normal values) | Fabry GLAc.851T>C | Fabry GLAc.1193_1196del |
|---|---|---|
| Genders | Male | Male |
| Age at diagnosis (years) | 4 | 49 |
| GLA mutation c | c.851T>C | c.1193_1196del |
| GLA mutation p | p.M284T | p.Gln398fs |
| Leukocyte a-galactosidase (reference range ≥1.2 nmol/mL/hour) | <0.1 | 0.2 (truncated protein) |
| Plasma lysoGb3 (reference range 0.24–0.81 ng/mL) | 27 ng/mL | 24 ng/mL |
| Proteinuria (reference range <0.15g/24 h) | 2.3g/24h | 2.0g/24h |
| LVH on ECG | Severe | Severe |
| Angiokeratoma | Yes | Yes |
| Anhidrosis | Yes | Yes |
| Chronic neuropathic pain | Yes | No |
| Brain involvement | Multiple strokes | Stroke and ischemiaa |
ECG, electrocardiogram; FD, Fabry disease; LVH, left ventricular hypertrophy; LysoGb3, globotriaosylsphingosine.
The table shows the key clinical features of patients with Fabry disease having GLAc.851T>C or GLAc.1193_1196del variants, along with normal values for reference.
a
Small white matter lesions and larger ischemic lesions that correlate with their clinical strokes.