Background: Carnitine deficiency is a potential cause of metabolic crisis during periods of high energy demand or stress. Affected individuals have very low carnitine levels in blood, decreased carnitine transport in fibroblasts, and commonly have mutations in the OCTN2 gene.
Case: We report management through pregnancy and delivery of a patient with carnitine deficiency who had reduced carnitine transport in fibroblasts, but no mutations in the OCTN2 gene.
Conclusion: Carnitine deficiency can be treated with exogenous carnitine in select patients during pregnancy. This is especially helpful, because carnitine levels decrease during pregnancy in normal individuals, and neonates are dependent on exogenous carnitine.