Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells.It is converted to acetyl-CoA,and to a lesser extent,to malonyl acid and malonylcarnitine(C3DC).Availability of carnitine has been reported to be essential for the developing fetus.The objectives of the present study were to analyze associations of malonylcarnitine,acetyl-carnitine(C2),and free carnitine(C0) in subjects with orofacial clefts.Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution.Concentrations of whole blood malonylcarnitine,acetylcarnitine,and free carnitine were measured using tandem mass spectrometry.The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate.In total,106 healthy children without congenital anomalies served as controls.Cut-off points were established using likeli-hood ratio values.Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group,0.048 μmol·L-1 vs.0.058 μmol·L-1,respectively(P=0.009).In patients with orofacial cleft,low malonylcarnitine levels(≤0.047 μmol·L-1) were 1.7 times more predominant than in healthy individuals(P=0.03).The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls,33.8 μmol·L-1 vs.37.8 μmol·L-1,respectively(P=0.026).After analysis of acetylcarnitine and free carnitine concentrations,the likelihood ratio test did not indicate valuable cut-off points.Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.
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