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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.