Table 1.
Clinical features and genotypes of the patients before enrollment.
| VLCADD-1 | VLCADD-2 | VLCADD-3 | VLCADD-4 | VLCADD-5 | VLCADD-6 | CPT2D-1 | CPT2D-2 | |
|---|---|---|---|---|---|---|---|---|
| Age | 26 y | 7 y | 25 y | 6 y | 6 y | 22 y | 9 y | 5 y |
| Sex | F | F | M | F | M | F | F | F |
| Diagnosis | VLCADD | VLCADD | VLCADD | VLCADD | VLCADD | VLCADD | CPT-2D | CPT-2D |
| Mutation | F113* | A333fs | Untested | R229X | L243F | E285G | R51G | F383Y |
| K382Q | R450H | Untested | K382Q | V547 M | V400 M | E174K | R477W | |
| Onset age | 1.5 y | 4.11 y | 5 mo | Around 1 y | 3 y | Around 13 y | 1.3 y | 3.7 y |
| Diagnosis age | 5 y | 5 y | 13 y | 0 mo | 3 y | 22 y | 3 y | 8 mo |
| Body weight (kg) | 56 | 24 | 58 | 20 | 21 | 47 | 35 | 17 |
| Clinical features | Myalgia or fatigue | Myalgia | Myalgia or fatigue | Myalgia or fatigue | Myalgia or rhabdomyolysis | Myalgia or rhabdomyolysis | Myalgia | Rhabdomyolysis or hyper CK |
| Frequency of | ||||||||
| Severe attacks | 20/year | 3/year | 0 | Several times/year | 1–2/year | 5/year | Several times/year | 1/year |
| Moderate attacks | 50–60/year | 4/year | 0 | 12/year | 0 | 7/year | Uncountable | 0 |
| Mild attacks | Almost every day | 6/year | 2/year | Uncountable | 0 | 12/year | Uncountable | 0 |
| Treatments | ||||||||
| Carnitine (mg/day) | 750 mg | None | 400–600 mg | almost none | None | 1800 mg | 1000 mg | 900–1800 mg |
| MCT oil/milk | None | None | Yes | None | Yes | None | Yes | None |
| Restriction of activity | Prolonged walk and standing | PE, exercise, and excursion | Airing | Unclear | None | None | None | None |
| Responsiveness of bezafibrate in vitro | Good | Good | Untested | Good | Good | Good | Good | Untested |
| CK baseline (IU/L) | 1933 ± 1220 | 180 ± 104 | 768 ± 612 | 1112 ± 1253 | 81 ± 13 | 590 ± 660 | 1201 ± 20 | 308 ± 169 |
| C14:1 baseline (μM) | 10.41 ± 4.64 | 1.18 ± 0.60 | 3.27 ± 4.05 | 2.98 ± 0.88 | 1.37 ± 1.77 | 1.36 ± 0.85 | ||
| C16 + C18:1 baseline (μM) | 8.52 ± 5.40 | 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 in the year prior to enrolment. Responsiveness of bezafibrate in vitro was evaluated using the in vitro probe acylcarnitine assay [8].