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Expanded newborn screening identifies maternal primary carnitine deficiency

2006; Elsevier BV; Volume: 90; Issue: 4 Linguagem: Inglês

10.1016/j.ymgme.2006.10.003

1096-7206

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

Mitochondrial Function and Pathology

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.