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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

Patient

Age (years)

Time of diagnosis (pre-symptomatic, < 2 months, 2–6 months, > 6 months)

Phenylalanine supplementation

Median first year concentrations

Median lifetime concentrations

Median last year concentrations

Phe (μmol/L)

Tyr (μmol/L)

Phe (μmol/L)

Tyr (μmol/L)

Phe (μmol/L)

Tyr (μmol/L)

1

6.6

< 2 months

No

10

195.5

43.5

512.5

44

518

2

7.3

> 6 months

Yes

29

344

3

7.9

> 6 months

No

42

389

41

521.5

4

8.1

Pre-symptomatic

No

29.5

342.5

32.5

295

37

405

5

8.1

> 6 months

No

41

483.9

44

462

6

8.3

2–6 months

Yes

28

257

19

376

18

401

7

8.8

Pre-symptomatic

Yes

18

245

20

490

32

759.5

8

9.2

Pre-symptomatic

Yes

26

281

21

457

39

514

9

9.7

2–6 months

No

40

245

26

397

38

427

10

9.9

2–6 months

Yes

16.5

155

27.8

370

45

572

11

10.3

Pre-symptomatic

Yes

18

180

22

330

52

506

12

10.4

Pre-symptomatic

Yes

18

280

31

370

60.5

615.5

13

10.6

Pre-symptomatic

Yes

21

259

26

349

14

12.0

Pre-symptomatic

No

26

448

518

30

477

15

12.1

Pre-symptomatic

Yes

24

286

22

286

46.5

374

16

13.4

2–6 months

No

43

300

30

407

17

14.0

Pre-symptomatic

No

55

538

47

668.3

52

959

18

15.1

< 2 months

Yes

61.5

372

24.5

542.5

67

746

19

15.4

Pre-symptomatic

No

25

365.5

18

530.5

60

766

20

15.6

Pre-symptomatic

No

39

643

42.5

628.5

45.5

700

21

16.0

2–6 months

No

22.5

293

36.5

398.5

17

382

22

16.5

< 2 months

No

24

366.5

28

392

38

434

23

16.9

Pre-symptomatic

No

41

361.5

46.3

713.5

64

866

24

17.7

2–6 months

No

67

631

48

573

58

735.5

25

18.4

Pre-symptomatic

No

22

351

10

509.5

26

19.5

Pre-symptomatic

No

41.5

663.5

20

625.3

27

20.5

< 2 months

No

45.5

620.5

28a

22.5

Pre-symptomatic

No

44

248

29b

23.0

2–6 months

No

43

412.5

44.3

689

55

766

30c

23.3

> 6 months

Yes

60

43

42

306.8

45

280

31a

23.5

> 6 months

No

10

195.5

44.5

483

58

484

  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