Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric A. Crombez, Bernd C. Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Kiki Sarafoglou, Mark McCann, Piero Rinaldo, Dietrich Matern, Cristina Amat di San Filippo, Marzia Pasquali, Susan A. Berry, Nicola Longo

Research output: Contribution to journalArticlepeer-review

75 Scopus citations


Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.

Original languageEnglish (US)
Pages (from-to)441-445
Number of pages5
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Apr 2007


  • Carnitine deficiency
  • Carnitine transport
  • Maternal disease
  • Newborn screening
  • OCTN2
  • Sudden death

ASJC Scopus subject areas

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


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