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Table 1 Enzyme activities of the respiratory chain measured in muscle homogenate of patient 1

From: Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

[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

  1. 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