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Table 1 Patient characteristics

From: Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

PatientAge (years)Time of diagnosis (pre-symptomatic, < 2 months, 2–6 months, > 6 months)Phenylalanine supplementationMedian first year concentrationsMedian lifetime concentrationsMedian last year concentrations
Phe (μmol/L)Tyr (μmol/L)Phe (μmol/L)Tyr (μmol/L)Phe (μmol/L)Tyr (μmol/L)
16.6< 2 monthsNo10195.543.5512.544518
27.3> 6 monthsYes29344
37.9> 6 monthsNo4238941521.5
48.1Pre-symptomaticNo29.5342.532.529537405
58.1> 6 monthsNo41483.944462
68.32–6 monthsYes282571937618401
78.8Pre-symptomaticYes182452049032759.5
89.2Pre-symptomaticYes262812145739514
99.72–6 monthsNo402452639738427
109.92–6 monthsYes16.515527.837045572
1110.3Pre-symptomaticYes181802233052506
1210.4Pre-symptomaticYes182803137060.5615.5
1310.6Pre-symptomaticYes2125926349
1412.0Pre-symptomaticNo2644851830477
1512.1Pre-symptomaticYes242862228646.5374
1613.42–6 monthsNo4330030407
1714.0Pre-symptomaticNo5553847668.352959
1815.1< 2 monthsYes61.537224.5542.567746
1915.4Pre-symptomaticNo25365.518530.560766
2015.6Pre-symptomaticNo3964342.5628.545.5700
2116.02–6 monthsNo22.529336.5398.517382
2216.5< 2 monthsNo24366.52839238434
2316.9Pre-symptomaticNo41361.546.3713.564866
2417.72–6 monthsNo676314857358735.5
2518.4Pre-symptomaticNo2235110509.5
2619.5Pre-symptomaticNo41.5663.520625.3
2720.5< 2 monthsNo45.5620.5
28a22.5Pre-symptomaticNo44248
29b23.02–6 monthsNo43412.544.368955766
30c23.3> 6 monthsYes604342306.845280
31a23.5> 6 monthsNo10195.544.548358484
  1. Patients that did not receive NTBC treatment directly after diagnosis are indicated with asterisks. aNTBC started approximately 1 month after diagnosis bNTBC started < 1 year after diagnosis cNTBC started > 1 year after diagnosis