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Expanded newborn screening identifies maternal primary carnitine deficiency |
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| Authors: | Schimmenti Lisa A Crombez Eric A Schwahn Bernd C Heese Bryce A Wood Timothy C Schroer Richard J Bentler Kristi Cederbaum Stephen Sarafoglou Kiki McCann Mark Rinaldo Piero Matern Dietrich di San Filippo Cristina Amat Pasquali Marzia Berry Susan A Longo Nicola |
| Affiliation: | University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA. |
| 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. |
| Keywords: | Carnitine deficiency Newborn screening Sudden death Maternal disease Carnitine transport OCTN2 |
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