Table 1.
Clinical features and genotypes of the patients before enrollment.
| VL-1 | VL-2 | VL-3 | VL-4 | VL-5 | CP-1 | |
|---|---|---|---|---|---|---|
| Age | 26 y | 25 y | 6 y | 6 y | 22 y | 5 y |
| Sex | F | M | F | M | F | F |
| Diagnosis | VLCADD | VLCADD | VLCADD | VLCADD | VLCADD | CPT-2D |
| Industry dose of bezafibrate | 400 mg/day | 400 mg/day | 100 mg/day | 100 mg/day | 400 mg/day | 100 mg/day |
| Standard dose of bezafibrate | 600 mg/day | 600 mg/day | 200 mg/day | 200 mg/day | 600 mg/day | 200 → 300 mg/day |
| Mutation | F113⁎ | Untested | R229X | L243F | E285G | F383Y |
| K382Q | Untested | K382Q | V547 M | V400 M | R477W | |
| Onset age | 1.5 y | 5 mo | Around 1 y | 3 y | Around 13 y | 3.7 y |
| Diagnosis age | 5 y | 13 y | 0 mo | 3 y | 22 y | 8 mo |
| Body weight (kg) | 56 | 58 | 20 | 21 | 47 | 17 |
| Clinical features | Myalgia or fatigue | Myalgia or fatigue | Myalgia or fatigue | Myalgia or rhabdomyolysis | Myalgia or rhabdomyolysis | Rhabdomyolysis or hyper CK |
| Frequency of | ||||||
| Severe attacks | 20 /year | 0 | Several times /year | 1–2/year | 5/year | 1/year |
| Moderate attacks | 50–60 /year | 0 | 12 /y | 0 | 7 /year | 0 |
| Mild attacks | Almost every day | 2/year | Uncountable | 0 | 12 /year | 0 |
| Treatments | ||||||
| Carnitine (mg/day) | 750 mg | 400–600 mg | Almost none | None | 1800 mg | 900–1800 mg |
| MCT oil/milk | None | Yes | None | Yes | None | None |
| Restriction of activity | Prolonged walk and standing | Airing | Unclear | None | None | None |
| Responsiveness of bezafibrate in vitro | Good | Untested | Good | Good | Good | Untested |
| CK baseline (IU/L) | 1933 ± 1220 | 768 ± 612 | 1112 ± 1253 | 81 ± 13 | 590 ± 660 | 308 ± 169 |
| C14:1 baseline (μM) | 10.41 ± 4.64 | 3.27 ± 4.05 | 2.98 ± 0.88 | 1.37 ± 1.77 | 1.36 ± 0.85 | |
| C16 + C18:1 baseline (μM) | 6.94 ± 5.70 | |||||
y, year; mo, month; M, male; F, female; VLCADD, very long-chain acyl-CoA dehydrogenase deficiency; CPT-2D, carnitine palmitoyltransferase-2 deficiency; PE, physical education. Frequency of attacks and treatments were provided as of the last year before enrolment. Responsiveness to bezafibrate in vitro was evaluated using a probe acylcarnitine assay [8].