Table 2 Analysis of bioenergetics enzymes in patients 1 and 2
From: Clinical and biochemical characterization of four patients with mutations in ECHS1
Patient 1 activitya (% mean) | Patient 2 activity (% mean) | Mean ± SD | Range | |
|---|---|---|---|---|
Fibroblasts: | ||||
PDHC, Activatedb | 0.88 (53 %) | 0.83 (50 %) | 1.66 ± 0.67 | 0.87–3.03 |
PDHC, Activatedc | NA | 1.11 (46 %) | 2.42 ± 0.88 | 1.26–4.42 |
PDHC, Inactivated | NA | 0.48 (52 %) | 0.92 ± 0.63 | 0.19–2.30 |
E3 | NA | 30.5 (51 %) | 60 ± 20 | 24.5–98.4 |
PDHC/E3 Ratio | NA | 3.64 (99 %) | 3.69 ± 1.16 | 2.15–6.57 |
2-ketoglutarate dehydrogenase | 0.84 (80 %) | 0.81 (77 %) | 1.05 ± 0.28 | 0.68–1.58 |
Liver: | ||||
PDHC, Activatedc | 0.88 (41 %) | 0.33 (15 %) | 2.17 ± 0.77 | 1.23–3.89 |
PDHC, Inactivated | 0.22 (37 %) | 0.03 (5 %) | 0.6 ± 0.43 | 0.07–1.80 |
E3 | 129 (75 %) | 178.8 (105 %) | 171 ± 46 | 102.0–266.0 |
PDHC/E3 Ratio | 0.68 (56 %) | 0.18 (15 %) | 1.22 ± 0.54 | 0.67–2.36 |
2-ketoglutarate dehydrogenase | 5.64 (265 %) | NA | 2.16 ± 0.99 | 0.68–3.48 |
Glycine Cleavage Enzyme | 74.9 (96 %) | 134.0 (171 %) | 78.2 ± 40.1 | 29.6–163.1 |
Muscle: | ||||
PDHC, Activatedc | 0.29 (9 %) | 0.10 (3 %) | 3.17 ± 1.49 | 1.20–6.52 |
PDHC, Inactivated | 0.15 (31 %) | 0.07 (15 %) | 0.48 ± 0.5 | 0.06–1.39 |
E3 | 20 (16 %) | 25 (20 %) | 128 ± 39 | 72.0–222.0 |
PDHC/E3 Ratio | 1.45 (64 %) | 0.40 (18 %) | 2.27 ± 1.02 | 0.82–4.54 |