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Mol Genet Metab. 2007 Apr;90(4):441-5. Epub 2006 Nov 28.

Expanded newborn screening identifies maternal primary carnitine deficiency.

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1
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.

PMID:
17126586
DOI:
10.1016/j.ymgme.2006.10.003
[Indexed for MEDLINE]
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