Table 1. Galactosemia patient characteristics.
| N | Mean | SD | Range of values | |
| Age at diagnosis (in days) | 22 | 12.4 | 14.3 | 0–60 |
| Age at introduction of diet (in days) | 22 | 12.2 | 14.4 | 0–60 |
| GALT activity (in % of mean reference value) 1 , 2 | 20 | 0.60 | 0.57 | ND3 - 1.83 |
| Urine galactose level (in µmol/mmol creatinine) 4 | 22 | 12.0 | 21.1 | ND3 – 96 |
| Urine galactitol level (in µmol/mmol creatinine) 4 | 22 | 132.0 | 22.8 | 94 – 187 |
| Special education 5 | 22 | 68.2% | ||
| Speech therapy 5 | 22 | 86.4% | ||
| Motor therapy 5 | 22 | 50.0% | ||
| GALT gene mutation | 10 | 50% | Q188R/Q188R | |
| 5 | 25% | Q188R/other6 | ||
| 5 | 25% | other7 |
GALT enzyme activities indicate that all patients have the classic galactosemia type. Urine galactose and galactitol levels indicate adequate dietary compliance.
1
GALT activity was measured at diagnosis;
2
In case the GALT activity is not reported, it was confirmed by the treating physician to be severely decreased;
3
ND = not detected;
4
Urine levels were measured within three months of testing;
5
At some point in life;
6
Q188R/L195P (n = 4) or Q188R/S135W (n = 1);
7
L195P/K229N (n = 3) or 400Tdel/unknown (n = 2).