Table 1.
Patient demographics and disease history
| Characteristic | N= 20 |
|---|---|
| Age, years, median (range)a | 12.7 (1.6 to 60.9) |
| Sex, female, n (%) | 9 (45%) |
| Ethnicity/Race | |
| White/Non-Hispanic | 19 (95%) |
| Other/Hispanic | 1 (5%) |
| LC-FAOD diagnosis type, n (%) | |
| MTFP | 2 (10%) |
| CPT1 | 0 |
| CPT2 | 3 (15%) |
| VLCAD | 9 (45%) |
| LCHAD | 5 (25%) |
| CACT | 1 (5%) |
| Family history of LC-FAOD, n (%) | 9 (45%) |
| Age at symptom onset, median (range) | 0 (0 to 9.75) |
| < 1 year | 16 (80%) |
| 10 years | 1 (5%) |
| unknown | 3 (15%) |
| Age at diagnosis | |
| ≤ 1 year | 14 (70%) |
| >1 year to ≤ 5 years | 3 (15%) |
| > 5 years to ≤ 10 years | 1 (5%) |
| > 10 years | 2 (10%) |
| Method of diagnosisb | |
| Prenatal screening | 2 (10%) |
| Newborn screening | 9 (45%) |
| Acylcarnitine profile | 15 (75%) |
| Skin biopsy | 12 (60%) |
| Other | 4 (20%) |
| MCT use | 17 (85%) |
a
Age at time of chart review
b
Some patients were diagnosed by more than one method