Table 1.
Subject Characteristics
| Age (Years) | Sex | Diagnosis | Mutations | FAO probe in fibroblasts | Body Wt (kg) | BMI (kg/m2) | % of kcals from triheptanoin | % prescribed dose consumed | age at presentation | Cardiac complications |
|---|---|---|---|---|---|---|---|---|---|---|
| Triheptanoin (C7) treatment group (N = 16) | ||||||||||
| 7 | F | LCHAD/TFP | c.1528G > C/c.1528G > C | 24.2 | 16.97 | 16.2 | 92.6% | NBS | N | |
| 7 | M | LCHAD/TFP | c.1528G > C/c.703C > T | 18.6 | 14.21 | 13.0 | 108.6% | NBS | N | |
| 7 | F | VLCAD | c.1619 T > C/c.1707_1716dupGACGGGGCC | 26.4 | 17.42 | 15.7 | 112.8% | NBS | N | |
| 11 | M | LCHAD/TFP | c.1528G > C/ c.1528G > C | 64.5 | 23.86 | 15.0 | 73.1% | I | Y | |
| 16 | M | LCHAD/TFP | c.1150–1G > T/ c.208T > C | 80.7 | 24.36 | 17.4 | 71.0% | C | N | |
| 21 | F | CPT2 | Common mutations not detected | 7% CPT2 | 63.2 | 23.70 | 11.3 | 73.7% | C | N |
| 23 | M | LCHAD/TFP | c.1528G > C/? | ↑OHACs | 65.5 | 22.09 | 19.3 | 52.3% | I | Y |
| 24 | F | LCHAD/TFP | c.1528G > C/c.479–482 T AGC > AATA | 55.2 | 21.56 | 16.8 | 78.7% | I | Y | |
| 29 | F | LCHAD/TFP | c.1528G > C/ c.1528G > C | 63.8 | 23.55 | 19.6 | 41.4% | NBS | N | |
| 33 | M | VLCAD | c.1322G > A/ c.1837C > T | 92.1 | 31.31 | 18.0 | 71.5% | 1 | Y | |
| 36 | F | VLCAD | No DNA analysis available | ↑LCACs | 68.1 | 24.21 | 15.8 | 37.8% | A | N |
| 39 | F | CPT2 | No DNA analysis available | 20% CPT2 | 93.8 | 32.65 | 19.3 | 74.5% | A | N |
| 39 | M | VLCAD | c.343delG/c.1244C > T | 88.0 | 27.50 | 22.0 | 82.8% | A | N | |
| 41 | F | CPT2 | c.338C > U/c.1238_1239delAG | 63.5 | 26.50 | 14.7 | 43.0% | A | N | |
| 41 | F | CPT2 | c.338C > T/c.1511C > T | 81.4 | 28.17 | 16.5 | 69.5% | A | N | |
| 64 | F | CPT2 | c.338C > T/ c.338C > T | 45.1 | 18.53 | 15.3 | 99.8% | A | N | |
| 27 | 62 | 24 | 16.62 | 73.94% | ||||||
| 16 | 24 | 5 | 2.66 | 22.59% | ||||||
| Trioctanoin (C8) treatment group (N = 16) | ||||||||||
| 8 | F | LCHAD/TFP | c.1528G > C/? | ↑OHACs | 21.9 | 14.91 | 15.20 | 79.7% | NBS | N |
| 9 | M | LCHAD/TFP | c.1528G > C/ c.1528G > C | 34.3 | 18.68 | 15.20 | 107.3% | NBS | N | |
| 9 | M | CPT2 | c.338C > T/c.340 + 3A > T | 2% CPT2 | 29.8 | 16.57 | 10.50 | NA | I | N |
| 11 | F | LCHAD/TFP | c.1528G>C/ c.1528G>C | 49.0 | 23.18 | 15.30 | 92.1% | NBS | N | |
| 15 | M | CPT2 | c.338C > T / c.1239_1240delGA /c.1342 T > C | 72.8 | 26.42 | NA | NA | C | N | |
| 16 | F | CPT2 | c.338C > T/ c.1666 1667delTT | 69.3 | 24.70 | 16.50 | 84.3% | C | N | |
| 17 | F | LCHAD/TFP | c.1528G > C/ c.1528G > C | 65.5 | 23.07 | 17.80 | 84.9% | I | N | |
| 17 | F | LCHAD/TFP | c.901G > A/? | 15% LCHAD in sibling | 44.7 | 18.49 | 16.50 | 30.7% | NBS | N |
| 19 | M | CPT2 | c.338C > T and c.1666_1667delTT | 91.7 | 29.60 | 5.60 | 86.5% | A | N | |
| 24 | F | VLCAD | c.1500_1502delCTT / c.1500_1502delCTT | 54.4 | 21.65 | 18.00 | 58.4% | C | N | |
| 24 | F | CPT2 | c.338C > T/? | 16% CPT2 | 91.4 | 32.23 | 15.10 | 55.8% | C | N |
| 27 | F | VLCAD | c.898A > C/ c.1097G > A | ↑LCACs | 82.1 | 27.43 | 18.50 | 89.0% | C | N |
| 39 | F | VLCAD | c.637G > A/ c.1065_1067delCAT | 61.1 | 20.37 | 15.70 | 75.9% | A | N | |
| 42 | M | VLCAD | c.637G > A/ c.1065_1067delCAT | 113.0 | 31.47 | 15.40 | 61.8% | A | N | |
| 43 | M | VLCAD | c.694G > A/c.1388G > A | 94.8 | 30.23 | NA | 81.6% | A | N | |
| 43 | F | CPT2 | c.338C > T/c.1239 > 1240delGA | 97.1 | 34.53 | 12.30 | 70.3% | A | N | |
| 22.69 | 67.06 | 24.60 | 14.83 | 75.59% | ||||||
| 12.64 | 26.80 | 5.96 | 3.40 | 19.04% | ||||||
Individual subject characteristics for each participant include age in years, sex (Sex; F = female; M = male), long-chain FAO diagnosis (LCHAD/TFP = long-chain hydroxyacylCoA dehydrogenase/trifunctional protein, VLCAD = very long-chain acylCoA dehydrogenase, CPT2 = carnitine palmitoyltransferase 2 deficiencies), mutations note the change in the respective cDNA of the gene corresponding to the protein listed under diagnosis. Mutations:? = no 2nd mutation was identified after sequencing all the exons of the gene; for CPT2, common mutations not detected indicates sequencing for the six common mutations in CPT2 was completed but complete sequencing of the gene was not performed. FAO probe study in fibroblasts = results of FAO probe studies in cultured skin fibroblasts either as a calculated percent of enzymatic activity compared to normal (%) or the presence of disease specific aclycarnitines when cells were incubated with palmitate; LCACs = long-chain acylcarnitines, OHACs = long-chain hydroxyacylcarnitines. Body weight in kg, body mass index (BMI; kg/m2),%of kilocalories (kcals) consumed from the study oil based on 3-day diet diary analysis for each group, and % of prescribed dose consumed = oil returned/oil dispensed x100. Age at presentation is the age when the diagnosis was suspected; NBS = newborn screening; I = infancy between 0 and 2 years; C = childhood 2–10 years; A = adulthood >10 years. Cardiac complications = the subject had some cardiac manifestation of disease at presentation or anytime in their lifetime but not during the study described here; Y = yes; N = no. Only one subject had decreased cardiac function during the study. Mean for age, body weight, BMI, and % of kcals from study oil are provided below the respective column for each group and the standard deviation is listed below the mean