Table 3.
Biochemical results of extensive investigations of four patients with ECHS1 deficiency
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Plasma lactate (mmol/L) |
1.47–>5.46
(0.6–2.4) |
2.46
(0.6–2.4) |
1.50–>5.68
(0.6–2.4) |
1.92–>4.92
(0.6–2.4) |
|
Plasma alanine (µmol/L) |
337–>764
(176–480) |
599 (0–675) |
423–>471 (0–675) |
383–>559
(176–480) |
|
Plasma proline (µmol/L) |
256–>717
(89–287) |
468
(0–435) |
211 (0–435) |
277–>300
(89–287) |
|
Acylcarnitine analysis (DBS) |
Normal profile Slight increase in C4OH/isoC4OH |
Not performed | Slightly decreased free carnitine and long chain AC. C4OH/isoC4OH not increased |
Normal profile C4OH/isoC4OH not increased |
| Organic acid analysis |
Mild increases in 3‐MGC 3‐HIVA 2,3‐dihydroxy‐2‐methylbutyrate |
Slight increases in 3‐MGC 2,3‐dihydroxy‐2‐methylbutyrate |
Marked lactate
Slight increase in MMA Mild increase in 3‐MGC 2,3‐dihydroxy‐2‐ methylbutyrate |
Mild dicarboxylic aciduria
Slight increases in MMA 3‐MGC 2,3‐dihydroxy‐2‐methylbutyrate |
| PDH activity in fibroblasts |
Reduced activity
No mutations found |
Not performed | Normal activity | Not performed |
|
Muscle respiratory Chain complexes (C) |
Normal CI, II, II, IV activities | Not performed | Decreased Complex III activity | Not performed |
| Other | AUH and multiple single gene tests known to cause LS all negative | SURF1 genetics was negative | Multiple single gene tests and WES negative | Single gene tests and WES all negative |
Results in bold indicate abnormal findings. AC = acylcarnitines; C4OH/isoC4OH = hydroxybutyryl/hydroxyisobutyryl‐carnitine; DBS = dried blood spot; LS = Leigh syndrome; 3‐MGC = 3‐methylglutaconate; 3‐HIVA = 3‐hydroxyisovalerate; MMA = methylmalonic acid; PDH = pyruvate dehydrogenage activity.