Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies

Susan R. Hintz, Dietrich Matern, Arnold Strauss, Michael J. Bennett, H. Eugene Hoyme, Susan Schelley, Joyce Kobori, Christopher Colby, Norman L. Lehman, Gregory M. Enns

Research output: Contribution to journalArticle

35 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)120-127
Number of pages8
JournalMolecular genetics and metabolism
Volume75
Issue number2
DOIs
StatePublished - 2002

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Hintz, S. R., Matern, D., Strauss, A., Bennett, M. J., Hoyme, H. E., Schelley, S., Kobori, J., Colby, C., Lehman, N. L., & Enns, G. M. (2002). Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. Molecular genetics and metabolism, 75(2), 120-127. https://doi.org/10.1006/mgme.2001.3282