Table 1.
Patient | Age at time of study | Sex | Age at diagnosis (months) |
Age at start of NTBC | Education | NTBC serum μmol/L |
Mean Tyra μmol/L |
Mean Phea μmol/L |
Relevant information | Psychomotor and cognitive functioning | Symptoms at diagnosis |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 19 y, 7 m | Female | 2 m | 3 m | Regular | 39 ± 20 | 587 ± 220 | 75 ± 21 | Borderline IQ | Acute hepatic failure | |
2 | 17 y, 4 m | Female | 36 m | 42 m | Regular | 48 ± 19 | 656 ± 71 | 80 ± 20 | Borderline IQ | Rickets-hepatosplenomegaly | |
3 | 14 y, 2 m | Male | 2 m | 4 m | Special | 38 ± 10 | 267 ± 128 | 65 ± 28 | History of child neglect | Intellectual disability | Hepatosplenomegaly-nephrocalcinosis rickets |
4 | 12 y, 5 m | Male | 11 m | 11 m | Regular | 38 ± 11 | 381 ± 163 | 80 ± 31 | Normal IQ | Rickets-hepatosplenomegaly | |
5 | 12 y, 5 m | Male | 9 m | 10 m | Regular | 42 ± 18 | 428 ± 247 | 67 ± 28 | Normal IQ | Acute hepatic failure | |
6 | 12 y, 7 m | Female | 8 m | 9 m | Regular | 38 ± 12 | 533 ± 245 | 85 ± 32 | Normal IQ | Acute hepatic failure, Rickets | |
7 | 10 y, 9 m | Female | 3 m | 4 m | Regular | 37 ± 13 | 583 ± 303 | 93 ± 26 | Borderline IQ | Acute hepatic failure, Coagulopathy | |
8 | 9 y, 9 m | Male | 1 m | 1 m | Regular | 30 ± 8 | 444 ± 155 | 88 ± 26 | ADD | Intellectual disability | Acute hepatic failure |
9 | 7 y, 6 m | Female | 6 m | 8 m | Regular | 41 ± 14 | 381 ± 159 | 107 ± 14 | Epilepsy, Ulcerative colitis | Borderline IQ | Hepatomegaly |
10 | 5 y, 5 m | Female | 4 m | 6 m | Regular | 22,6 ± 5 | 236 ± 122 | 95 ± 56 | Pre-term birth | Normal IQ | Hepatosplenomegaly - Acute hepatic failure |
11 | 3 y, 8 m | Male | 11 m | 12 m | 40 ± 14 | 187 ± 100 | 93 ± 31 | Normal motor and mental development | Rickets hepatosplenomegaly | ||
12 | 1 y, 8 m | Male | 10 m | 10 m | b | b | b | Neonatal asphyxia | Developmental delay | Acute hepatic failure, Hepatosplenomegaly, hypoglycemia |
From diagnose to moment to last assessment.
Data not included due to limited number of samples due to age.