|
Number of patients
| |
15 (12%)
|
82 (65%)
|
29 (23%)
|
126
| |
|
Gender
|
Male
|
10
|
35
|
19
|
64
|
51
|
|
Female
|
5
|
47
|
10
|
62
|
49
|
|
Age at diagnosis
|
Infantile
|
0
|
38
|
2
|
40
|
32
|
|
1 to 15 years
|
9
|
23
|
8
|
40
|
32
|
|
Over 16 years
|
6
|
21
|
19
|
46
|
37
|
|
Transition from pediatric metabolic clinic
| |
11
|
70
|
19
|
100
|
79
|
|
New patients
| |
4
|
12
|
10
|
26
|
21
|
|
Specific treatment
| |
9
|
67
|
23
|
99
|
79
|
|
Identified pathogenic variant
| |
10
|
29
|
24
|
63
|
50
|
|
Complications related to the disease
| |
8
|
39
|
17
|
64
|
51
|
|
Hospitalized at least once
| |
5
|
26
|
14
|
45
|
36
|
|
Hospitalized due to a metabolic origin
| |
6
|
15
|
12
|
33
|
73
|
|
Lost to follow-up
| |
1
|
11
|
3
|
15
|
12
|
|
Deceased
| |
1
|
1
|
0
|
2
|
2
|
