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Whole blood propionylcarnitine in newborns with orofacial cleft

Kamil K Hozyasz1, Mariusz Oltarzewski, Iwona Lugowska

  • 1Departments of Pediatrics, Pediatric Surgical Oncology and Pediatric Surgery and Neonatal Screening Laboratory, Institute of Mother and Child, Warsaw, Poland. khozyasz@verco.com.pl

Maternal & Child Nutrition
|April 8, 2011
PubMed

Insights

This study found no significant difference in propionylcarnitine levels between newborns with orofacial clefts and controls. Maternal vitamin B12 deficiency, indicated by elevated propionylcarnitine, does not appear to be a risk factor for cleft lip and palate.

Area of Science:

  • Biochemistry
  • Genetics
  • Developmental Biology

Background:

  • Orofacial clefts result from complex genetic and environmental interactions.
  • Vitamin B12 plays a role in preventing certain birth defects, as shown in animal studies.
  • Elevated propionylcarnitine in newborns suggests maternal vitamin B12 deficiency.

Purpose of the Study:

  • To investigate the association between increased propionylcarnitine levels in newborns and orofacial clefts.
  • To determine if maternal vitamin B12 deficiency is a risk factor for cleft lip with or without cleft palate (CLP).

Main Methods:

  • A retrospective study comparing 52 newborns with isolated CLP to 107 unaffected control newborns.
  • Whole blood propionylcarnitine concentrations were quantified using tandem mass spectrometry.
  • Statistical analysis using a T-test for equality of means was performed.

Main Results:

  • The mean propionylcarnitine concentration in newborns with clefts was 2.82±1.06µmolL⁻¹.
  • The mean propionylcarnitine concentration in control newborns was 2.68±0.94µmolL⁻¹.
  • No statistically significant difference was found between the two groups (P=0.381).

Conclusions:

  • Maternal vitamin B12 deficiency, indicated by elevated propionylcarnitine, does not appear to be a significant risk factor for CLP in this study population.
  • Further research may be needed to fully elucidate the role of vitamin B12 in orofacial cleft development.

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