Table 2.
Patient groups and clinical outcomes
| n | All patients (n = 56) | n | Classical patients (n = 47) | n | Variant patients (n = 7) | n | Homozygous p.Ser135Leu (n = 2) | |
|---|---|---|---|---|---|---|---|---|
| Gender | 56 | 47 | ||||||
| Male | 26 | 23 | 3 | |||||
| Female | 30 | 24 | 4 | 2 | ||||
| Age (years) | 56 | 18.0 (0–48) | 47 | 21.0 (4–48) | 7 | 5.0 (0–7) | 2 | 16/23 |
| Paediatric patients (<18 years) | 27 | 19 | 7 | 1 | ||||
| Adult patients (≥18 years) | 29 | 28 | 1 | |||||
| GALT activity (%) | 54 | 45 | 7 | 2 | ||||
| <3.3 | 45 | 44 | 1 | |||||
| ≥3.3 | 9 | 1 | 7 | 1 | ||||
| IQ | 47 | 78 (45–103) | 40 | 77 (45–103) | 5 | 89 (86–96) | 2 | 61/71 |
| IQ < 85 | 29 | 27 | 2 | |||||
| IQ ≥ 85 | 18 | 13 | 5 | |||||
| Neurology | 36 | 29 | 5 | 2 | ||||
| MDs, no | 19 | 12 | 5 | 2 | ||||
| MDs, yes | 17 | 17 | ||||||
| TRS | 20 | 5.5 (0–38) | 18 | 6.0 (0–38) | 2 | 0/1 | ||
| DRS | 20 | 0.0 (0–6) | 18 | 0.0 (0–6) | 2 | 0/0 | ||
| Endocrinology (females ≥12 years) | 21 | 19 | 2 | |||||
| Puberty induced, no | 11 | 9 | 2 | |||||
| Puberty induced, yes | 8 | 8 | ||||||
| POI, no | 5 | 3 | 2 | |||||
| POI, yes | 12 | 12 | ||||||
| Gal-1-P (μmol/g Hb) in erythrocytesa | 50 | 0.35 (0.0–0.70) | 43 | 0.37 (0.16–0.70) | 7 | 0.0 (0–0.13) | 2 | 0.14/0.13 |
| Galactitol (mmol/mol creatinine) in urinea | 34 | 120 (0–311) | 25 | 140 (109–311) | 7 | 10 (0.0–97) | 2 | 69/58 |
Data reported in median and ranges.
a
Most recent value is presented.
IQ: intelligence quotient; TRS: tremor rating scale; DRS: dystonia rating scale.