Skip to main content

Table 1 Main biochemical findings in a case with GLUT1 and CoQ deficiency

From: Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

 

Patient

Reference values

Blood

  

Lactate

1.8-2.6 (2.2)

0.5-1.7 mmol/L

Alanine

300-691 (560)

150-270 μmol/L

Cholesterol

4.0

< 5.2 mmol/L

CoQ (baseline)

0.33

0.45-1.1 μmol/L

CoQ (after treatment)

3.9-7.8 (5.5)

0.45-1.1 μmol/L

Cerebrospinal fluid

  

Glucose

1.9

2.2-3.4 mmol/L

Lactate

1.07

1.1-2.2 mmol/L

Muscle biopsy

  

CoQ content

76

115-450 nmol/g protein

Complex I + III*

149

107-560 mU/citrate synthase U

Complex II + III*

82

75-149 mU/citrate synthase U

Fibroblast

  

CoQ content (incubated with glucose)

78

100-150 nmol/g protein

CoQ content (incubated with galactose)

123

100-150 nmol/g protein

  1. Patient results from blood are expressed as range (median).
  2. *Complex I + III: NADH:cytochrome C oxidoreductase. Complex II + III: succinate:cytochrome C oxidoreductase.