| Literature DB >> 17126586 |
Lisa A Schimmenti1, 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.
Abstract
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.Entities:
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Year: 2006 PMID： 17126586 DOI： 10.1016/j.ymgme.2006.10.003
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797