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.
Bibliographical noteFunding Information:
Supported in part by Grant DK 53824 from the National Institutes of Health (N.L.).
- Carnitine deficiency
- Carnitine transport
- Maternal disease
- Newborn screening
- Sudden death
- Inborn errors of metabolism