title: Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
abstract: A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring.
authors.affiliation: Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
authors.forename: Robin R
authors.initials: RR
authors.lastname: McGoey
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000097:blood / Q000172:deficiency; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis; D028361:Mitochondrial Diseases / Q000097:blood / Q000175:diagnosis; D009035:Mothers; D009135:Muscular Diseases / Q000097:blood / Q000175:diagnosis; D015997:Neonatal Screening / Q000379:methods*; D010641:Phenotype
chemical_list: C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine