Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts.
Written by admin on May 30, 2013
Arch Oral Biol. 2013 May;58(5):459-61. doi: 10.1016/j.archoralbio.2012.10.013. Epub 2013 Feb 5.
Budner M(1), Surowiec Z, Fudalej P, Hozyasz KK.
Author information:
(1) Department of Paediatric Surgery, Institute of Mother and Child, Warsaw, Poland.
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.
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.
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.
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.
Copyright © 2012 Elsevier Ltd. All rights reserved.
DOI: 10.1016/j.archoralbio.2012.10.013
PMID: 23395542 [Indexed for MEDLINE]
