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Table 3 Proband’s carnitine and acylcarnitine profile

From: The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

Acyl carnitine

Quantity1st(μmol/L)

Quantity2nd (μmol/L)

Acyl carnitine

Quantity1st(μmol/L)

Quantity2nd(μmol/L)

C0 (FC)

25.00

19

C12

0.13

0.17

C2

15.30

6.5

C12:1

0.04

0.12

C3

0.73

0.2

C14

0.08

0.03

C3-DC

0.04

0.04

C14:1

0.05

0.03

C4

0.63

0.46

C14:2

0.02

0.03

C4-DC

1.10

0.41

C14-OH

0.01

0.02

C5

0.10

0.07

C16

0.65

0.41

C5-DC

0.06

0.04

C16:1

0.06

0.03

C5-OH

0.17

0.1

C16-OH

0.01

0.01

C5:1

0.06

0.04

C18

0.42

0.26

C6

0.26

0.18

C18:1

0.59

0.28

C6-DC

0.00

0

C18:1-OH

0.01

0.01

C8

0.10

0.07

C18:2

0.16

0.07

C10

0.16

0.16

C18:2-OH

0.01

0.01

C10:1

0.15

0.09

AC/FC

0.84

0.52

  1. 1st: Measurements were done after 12 hours fasting at 42 months of age.
  2. 2nd: Measurements were done after 12 hours fasting at 60 months of age.