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Table 1 Results of metabolic study

From: Novel MTO1 mutations associated with an intrafamilial phenotypic variability

Laboratory parameters

Index case

Younger Sibling

Reference range

Blood lactate (mmol/L)

10.20

6.5

0.62–2.44

Respiratory chain enzyme complex III (nmol/min/mg)

15.40

54.9

35.00–65.00

Respiratory chain enzyme complex IV (nmol/min/mg)

6.10

5.7

16.00–30.00

Lactate to pyruvate ratio

NA

53

10–25

Plasma alanine (umol/L)

NA

550

236–410

  1. Summary of metabolic study performed in the described cases. NA not available