doi: 10.1016/j.ymgme.2006.10.003.
Epub 2006 Nov 28.
Expanded newborn screening identifies maternal primary carnitine deficiency
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- PMID: 17126586
- DOI: 10.1016/j.ymgme.2006.10.003
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Expanded newborn screening identifies maternal primary carnitine deficiency
Mol Genet Metab.
2007 Apr.
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.
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