Malonylcarnitine in newborns with non-syndromic cleft lip with or without cleft palate

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, acetylcarnitine (C2), and free carnitine (CO) in subjects with orofacial clefts.

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 nonsyndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values.

The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 micromol x L(-1) vs. 0.058 micromol x L(-1), respectively (P = 0.009). In patients with orofacial cleft, low malonylcarnitine levels (< or = 0.047 micromol x 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 micromol x L(-1) vs. 37.8 micromol x L(-1), respectively (P = 0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-offpoints.

The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.