Background
Results
Patients’ characteristics
n | Valid n | % | |
---|---|---|---|
Gender | 509 | ||
Male | 245 | 48.1 | |
Female | 264 | 51.9 | |
Age (years) | 509 | ||
< 18 years | 233 | 45.8 | |
≥ 18 years | 276 | 54.2 | |
Ethnicity | 466 | ||
Caucasian | 436 | 93.6 | |
Othera | 30 | 6.4 | |
GALT gene mutationb | 404 | ||
c.[563A>G];[563A>G] (p.[(Gln188Arg)];[(Gln188Arg)]) | 233 | 57.7 | |
c.[563A>G];[855G>T] (p.[(Gln188Arg)];[(Lys285Asn)]) | 29 | 7.2 | |
c.[563A>G];[584T>C] (p.[(Gln188Arg)];[(Leu195Pro)]) | 10 | 2.5 | |
c.[563A>G];[5.2 kb del] | 5 | 1.2 | |
c.[855G>T];[855G>T] (p.[(Lys285Asn)];[(Lys285Asn)]) | 7 | 1.7 | |
c.[855G>T];[584T>C] (p.[(Lys285Asn)];[(Leu195Pro)]) | 2 | 0.5 | |
c.[584T>C];[584T>C] (p.[(Leu195Pro)];[(Leu195Pro)]) | 3 | 0.7 | |
c.[5.2 kb del];[5.2 kb del] | 3 | 0.7 | |
Other | 112 | 27.7 | |
Enzyme activity | 255 | ||
≤ 1% | 211 | 82.7 | |
> 1 ≤ 5% | 36 | 14.1 | |
> 5 ≤ 10% | 8 | 3.1 | |
Diagnosed following NBS | 215 | 468 | 45.9 |
Neonatal illness
n | Valid n | % | |
---|---|---|---|
Acute neonatal illnessa | 332 | 416 | 79.8 |
Elevated liver enzymes (ALT, AST > 30 U/L) | 211 | 300 | 70.3 |
Bleeding diathesis (abnormal PT/ APTT) | 128 | 301 | 42.5 |
Encephalopathyb | 71 | 245 | 29.0 |
Signs of infection | 96 | 351 | 27.4 |
Positive blood culture | 36 | 64 | 56.3 |
Cataract | 68 | 264 | 25.8 |
Hypoglycemia (< 2.6 mmol/L) | 65 | 259 | 25.1 |
Increased neonatal Gal-1-P (> 0.05 μmol/g Hb or > 10 mg/dL) | 89 | 98 | 90.8 |
Long-term complications
Neurological, cognitive and behavioral complications
n | Valid n | % | |
---|---|---|---|
Developmental delay infancy/childhood | 167 | 320 | 52.2 |
Motor | 18 | 10.8 | |
Cognitive | 66 | 39.5 | |
Motor and cognitive | 83 | 49.7 | |
Language delayb | 128 | 164 | 78.0 |
Isolated language delay | 37 | 170 | 21.8 |
Language and speech disordersa | 192 | 289 | 66.4 |
Speech defect | 129 | 315 | 41.0 |
Impairment in vocabulary | 117 | 288 | 40.6 |
Impairment in grammar | 98 | 253 | 38.7 |
Verbal dyspraxia | 67 | 285 | 23.5 |
Dysarthria | 49 | 246 | 19.9 |
Neurological complicationsa | 168 | 323 | 52.0 |
Tremor | 104 | 336 | 31.0 |
General motor abnormality | 86 | 319 | 27.0 |
Ataxia | 40 | 329 | 12.2 |
Seizures | 26 | 320 | 8.1 |
Dystonia | 24 | 318 | 7.5 |
Mental (psychiatric) and behavioral problemsa | 128 | 288 | 44.4 |
Anxiety disorder | 67 | 300 | 22.3 |
Depression | 38 | 303 | 12.5 |
ADHD | 21 | 286 | 7.3 |
Autism spectrum disorder | 17 | 281 | 6.0 |
Gonadal complications
n | Valid n | % | |
---|---|---|---|
Female | |||
Puberty | 134 | ||
Spontaneous puberty | 69 | 51.5 | |
Induced puberty | 65 | 48.5 | |
Primary ovarian insufficiencya | 118 | 148 | 79.7 |
Hormone replacement therapy | 86 | 103 | 83.5 |
Tried to conceive | 16 | 95 | 16.8 |
Successful pregnancyb | 4 | 16 | 25.0 |
Male | |||
Delayed Pubertyc | 3 | 63 | 4.8 |
Cryptorchidism | 3 | 54 | 5.6 |
Fathered children | 5 | 64 | 7.8 |