Expanded newborn screening identifies maternal primary carnitine deficiency

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• 作者：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 ; et al.
• 关键词：Carnitine deficiency ; Newborn screening ; Sudden death ; Maternal disease ; Carnitine transport ; OCTN2
• 刊名：Molecular Genetics and Metabolism
• 出版年：2007
• 出版时间：April 2007
• 年：2007
• 卷：90
• 期：4
• 页码：441-445
• 全文大小：154 K

文摘

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.