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

Background/purpose e, 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. als and methods y 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. s dian (interquartile range, IQR) concentrations of C5OH in patients with clefts and controls were 0.16 (0.13–0.22) μmol l−1 and 0.17 (0.13–0.20) μmol l−1, respectively (p = 0.90). The receiver operating characteristic analysis did not find out cut-off values for C5OH discriminating between cases and controls. sion appears to be no association between biotin deficiency, as indexed by an increase of C5OH, and orofacial clefts in the investigated group of patients.