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. 2017 Mar 26;11:12–16. doi: 10.1016/j.ymgmr.2017.01.016

Table 1.

Characteristics of the individuals.

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
a

From diagnose to moment to last assessment.

b

Data not included due to limited number of samples due to age.