Table 3.
N | Classical non-screened patients (n = 32) | n | Classical screened patients (n = 15) | P-value | |
---|---|---|---|---|---|
Gender | 32 | 15 | |||
Male | 17 | 6 | 0.534 | ||
Female | 15 | 9 | |||
Age (years) | 32 | 24.5 (11–48) | 15 | 10.0 (4–32) | 0.002 |
Paediatric patients (<18 years) | 9 | 10 | 0.024 | ||
Adult patients (≥18 years) | 23 | 5 | |||
GALT activity (%) | 30 | 15 | |||
<3.3 | 29 | 15 | 1.000 | ||
≥3.3 | 1 | ||||
IQ | 26 | 78.0 (45–103) | 14 | 71.0 (52–95) | 0.421 |
IQ < 85 | 16 | 10 | 1.000 | ||
Q ≥ 85 | 10 | 4 | |||
Neurology | 19 | 10 | |||
MDs, no | 6 | 6 | 0.236 | ||
Ds, yes | 13 | 4 | |||
TRS | 15 | 6.0 (0–38) | 3 | 10.0 (4–34) | 0.311 |
DRS | 15 | 0.0 (0–6) | 3 | 1.0 (0–2) | 0.104 |
Endocrinology (females ≥ 12 years) | 14 | 5 | |||
Puberty induced, no | 7 | 2 | 0.620 | ||
Puberty induced, yes | 5 | 3 | |||
POI, no | 2 | 1 | 1.000 | ||
POI, yes | 9 | 3 | |||
Gal-1-P (μmol/g Hb) in erythrocytesa | 28 | 0.36 (0.24–0.62) | 15 | 0.40 (0.16–0.70) | 0.221 |
Galactitol (mmol/mol creatinine) in urinea | 14 | 128 (109–168) | 11 | 175 (113–311) | 0.204 |
Data reported in median and ranges.
Most recent value is presented.
IQ: intelligence quotient; TRS: tremor rating scale; DRS: dystonia rating scale.
Bold numbers defining as statistically significant.