Patient | Sex | Current age (years) | LC-FAOD diagnosis | Age at diagnosis (months) | Clinical symptoms (decompensation) at diagnosis | Newborn screening | Age at start of C7 therapy (years) | Hepatopathy2 | Cardiomyopathy3 | Retinopathy | NG or PEG tube | Special-needs school | Poly-neuropathy | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
At age (months/years) | At age (months/years) | At age (months/years) | ||||||||||||||
1 | Male | 20.5 | LCHADD | 23.1 | Yes | Not yet established1 | 4.8 | Yes | 23/1.9 | Yes | 23/1.9 | Yes | 98/8.2 | No | No | No |
2 | Female | 14.2 | LCHADD | 1.6 | No | Negative at firsta1 | 0.7 | No | – | No | – | Yes | 69/5.8 | No | No | No |
3 | Male | 9.1 | LCHADD | 0.3 | No | Positive | 0.6 | Yes | 9/0.7 | Yes | 9/0.7 | Yes | 78/6.5 | No | No | No |
4 | Female | 4.8 | LCHADD | 0.4 | Yes | Positive | 1.0 | Yes | 2/0.2 | Yes | 3/0.3 | Yes | 24/2.0 | No | No | No |
5 | Female | 5.0 | LCHADD | 0.0 | No | Positive | 1.0 | No | – | No | – | No | – | No | No | No |
6 | Female | 3.1 | VLCADD | 0.0 | No | Positive | 0.0 | No | – | Yes | 10/0.8 | No | – | No | No | No |
7 | Female | 4.1 | LCHADD | 0.0 | No | Positive | 0.1 | No | – | No | – | No | – | No | No | No |
8 | Female | 4.1 | LCHADD | 0.0 | No | Positive | 0.1 | No | – | No | – | No | – | No | No | No |
9 | Male | 9.1 | CPTII | 4.1 | No | Positive | 7.9 | Yes | 2/0.2 | Yes | 3/0.3 | No | – | No | No | No |
10 | Male | 11.6 | LCHADD | 5.5 | Yes | Negative at firsta1 | 3.7 | Yes | 5/0.4 | Yes | 5/0.4 | Yes | 38/3.2 | Yes | No | No |
11 | Male | 13.7 | LCHADD | 0.0 | Yes | Positive | 11.6 | Yes | 113/9.4 | Yes | 139/11.6c | Yes | 38/3.2 | No | Yes | Yese |
12 | Male | 32.0 | VLCADD | 36.0 | Yes | Not yet establisheda | 29.4 | Yes | 376/31.3 | Yes | 36/3c | No | – | No | No | No |
Median | 9.1 | 0.35 | 1.0 | 9/0.7 | 9.5/0.8 | 53/4.4 |