Table 1 Epidemiological characteristics of the patients

Number of cases

27

52

11

Males

22

21

5

females

5

31

6

Number of deceased

20

7

1

at diagnosis

13

5

1

during follow up

7

2

0

Number of decompensations per patient (and relative to mean length of follow-up)*

6,2 (1.0/yr)

2,5 (1/10 yrs)

1,4 (<1/20 yrs)

Neurological score (IQ) at last follow up, N > 80

90

92

Normal socio-professional insertion

Mean peak plasma ammonia at diagnosis (μmol/L), N < 50 μmol/L

960

500

Mean plasma glutamine at diagnosis (μmol/L), N: 530 +/- 81 μmol/L

4110

1000

Plasma citrulline at diagnosis (μmol/L), N: 26+/-8 μmol/L

5

15

14