title: Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
abstract: Tandem mass spectrometry (MS/MS) has been introduced in several newborn screening programs for the detection of a large number of inborn errors of metabolism, including fatty acid oxidation disorders (FAOD). Early identification and treatment of FAOD have the potential to improve outcome and may be life-saving in some cases; an estimated 5% of sudden infant deaths are attributable to undiagnosed disorders of fatty acid oxidation. We report very early neonatal presentations of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (TFP) deficiencies confirmed by molecular analysis. Both patients had cardiorespiratory collapse and hypoglycemia, without a history of maternal pregnancy complications. Retrospective MS/MS analysis of the original newborn screening blood spots revealed characteristic acylcarnitine profiles. These cases are among the earliest reported presentations of LCHAD and TFP deficiencies and further illustrate the potential of MS/MS as a valuable tool for newborn screening of FAOD. However, timely analysis and reporting of results to clinicians are essential, because these disorders can manifest in the first few days of life.
authors.affiliation: Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, California 94304, USA. srhintz@stanford.edu
authors.forename: Susan R
authors.initials: SR
authors.lastname: Hintz
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Arnold
authors.initials: A
authors.lastname: Strauss
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
authors.forename: Susan
authors.initials: S
authors.lastname: Schelley
authors.forename: Joyce
authors.initials: J
authors.lastname: Kobori
authors.forename: Christopher
authors.initials: C
authors.lastname: Colby
authors.forename: Norman L
authors.initials: NL
authors.lastname: Lehman
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D011247:Pregnancy; D013997:Time Factors
chemical_list: D005227:Fatty Acids; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063991:Mitochondrial Trifunctional Protein