Table 1.
Enzyme activities of the respiratory chain measured in muscle homogenate of patient 1
| [mUnit/mg protein] | Reference range | [mUnit/mUnit CS] | Reference range | ||
|---|---|---|---|---|---|
| Citrate synthase (CS) | 168 | 150–338 | |||
| Complex I | 23 | 28–76 | C1/CS | 0.14 | 0.14–0.35 |
| Complex I + III (C13) | 42 | 49–218 | C13/CS | 0.25 | 0.24–0.81 |
| Complex II (C2) | 32 | 33–102 | C2/CS | 0.19 | 0.18–0.41 |
| Complex II + III (C23) | 45 | 65–180 | C23/CS | 0.27 | 0.30–0.67 |
| Complex III (C3) | 327 | 304–896 | C3/CS | 1.95 | 1.45–3.76 |
| Cytochrome oxidase (COX) | 201 | 181–593 | COX/CS | 1.20 | 0.91–2.24 |
| Complex V (C5) | 69 | 86–257 | C5/CS | 0.41 | 0.42–1.26 |
| Pyruvate dehydrogenase (PDHC) | 3.9 | 5.3–19.8 | PDHC/CS | 0.023 | 0.026–0.079 |
Some enzymes of the respiratory chain showed mildly reduced activities (bold data). However, in relation to the activity of citrate synthase the impairment was only minimal