Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts.

Authors :: Budner M
Surowiec Z
Fudalej P
Hozyasz KK
Source :: Archives of oral biology [Arch Oral Biol] 2013 May; Vol. 58 (5), pp. 459-61. Date of Electronic Publication: 2013 Feb 05.
Publication Year :: 2013
Abstract: Background/purpose: In mice, biotin deficiency is one of the most potent clefting factors. Increased 3-hydroxyisovalerylcarnitine (C5OH) is regarded as a biomarker of biotin deficiency. This retrospective study was undertaken to determine whether increased C5OH in newborns is associated with orofacial clefts.<br />Materials and Methods: Seventy newborns with non-syndromic cleft lip with or without cleft palate and 140 control newborns without congenital anomalies were investigated. Whole-blood C5OH concentrations were measured using tandem mass spectrometry.<br />Results: The median (interquartile range, IQR) concentrations of C5OH in patients with clefts and controls were 0.16 (0.13-0.22)μmoll(-1) and 0.17 (0.13-0.20)μmoll(-1), respectively (p=0.90). The receiver operating characteristic analysis did not find out cut-off values for C5OH discriminating between cases and controls.<br />Conclusion: There appears to be no association between biotin deficiency, as indexed by an increase of C5OH, and orofacial clefts in the investigated group of patients.<br /> (Copyright © 2012 Elsevier Ltd. All rights reserved.)