Table 6 Clinical outcome and frequency of different symptoms (mean age at onset and age range) in the treated cohort (100% = 148 patients)

Liver transplantation

18

12.2

Acute liver disease (12 months; SD: 9.2; range: 5–28)

5

3.4

Carcinoma (74.3 months; SD: 67; range: 6–216)

19

12.8

Cirrhosis (19.2 months; SD: 16.4; range: 3–72)

27

18.2

Hepatomegaly (26.2 months; SD: 16.4; range: 1–204)

29

19.6

Portal hypertension

1

0.7

Renal dysfunction (in general)

22

14.9

Renal tubular dysfunction (28.4 months; SD: 32.2; range: 4–114)

16

10.8

Nephromegaly (23.3 months; SD: 20.6; range: 8–68)

13

8.8

Nephrocalcinosis (30 months; SD: 33.9; range: 6–54)

4

2.7

Nephrolithiasis, compensated renal failure

1

0.7

Rickets (28.3 months; SD: 21.4; range: 5–54)

13

8.8

Impaired growth

2

1.4

Adipositas

2

1.4

Cardiomyopathy (28 months)

1

0.7

Neurological concomitant diseases (55 months; SD: 40.9; range: 7.1-96)

10

6.8

Neurological crisis (41.2 months; SD: 23.2; range: 9–60)

6

4.1

Epilepsy and convulsion

11

7.4

Hyperactivity, ADHS, behavioural disorders

12

8.1

Learning/language difficulties, dyslexia

2

1.4

Impaired psychomotor development (29.4 months; SD: 29.3; range: 3–96)

30

20.3

Death

3

2.0