title: Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
abstract: Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany.
authors.forename: Ina
authors.initials: I
authors.lastname: Schymik
authors.forename: Michaela
authors.initials: M
authors.lastname: Liebig
authors.forename: Martina
authors.initials: M
authors.lastname: Mueller
authors.forename: Udo
authors.initials: U
authors.lastname: Wendel
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Arnold W
authors.initials: AW
authors.lastname: Strauss
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Ute
authors.initials: U
authors.lastname: Spiekerkoetter
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D015997:Neonatal Screening / Q000379:methods*; D021241:Spectrometry, Mass, Electrospray Ionization
chemical_list: C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine