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

Arch Oral Biol. 2013 May;58(5):459-61. doi: 10.1016/j.archoralbio.2012.10.013. Epub 2013 Feb 5.

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.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biotin / deficiency*
  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Cleft Lip / blood
  • Cleft Lip / etiology*
  • Cleft Palate / blood
  • Cleft Palate / etiology*
  • Humans
  • Infant, Newborn
  • Poland / ethnology
  • ROC Curve
  • Retrospective Studies
  • Risk Factors
  • Statistics, Nonparametric
  • Tandem Mass Spectrometry
  • Vitamin B Deficiency / blood
  • Vitamin B Deficiency / complications*
  • White People

Substances

  • 3-hydroxyisovalerylcarnitine
  • Biotin
  • Carnitine