title: Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Paediatric Surgery, Institute of Mother and Child, Warsaw, Poland.
authors: Margareta
authors: M
authors: Budner
authors: Zbigniew
authors: Z
authors: Surowiec
authors: Piotr
authors: P
authors: Fudalej
authors: Kamil K
authors: KK
authors: Hozyasz
mesh_terms: D001710:Biotin / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D002971:Cleft Lip / Q000097:blood / Q000209:etiology*; D002972:Cleft Palate / Q000097:blood / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D011044:Poland / Q000208:ethnology; D012372:ROC Curve; D012189:Retrospective Studies; D012307:Risk Factors; D018709:Statistics, Nonparametric; D053719:Tandem Mass Spectrometry; D014804:Vitamin B Deficiency / Q000097:blood / Q000150:complications*; D044465:White People
chemical_list: C098116:3-hydroxyisovalerylcarnitine; D001710:Biotin; D002331:Carnitine