Complex molecules disorders | Small molecules disorders | Energy defects disorders | Total | Percentage (%) | ||
---|---|---|---|---|---|---|
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 |