Carnitine deficiency in pregnancy.
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.


METHODS
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.


CONCLUSIONS
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.
Donnelly
Christopher T
CT
Department of Obstetrics and Gynecology, University of California, Irvine, California 92868, USA.
Hameed
Afshan B
AB
Abdenur
Jose E
JE
Wing
Deborah A
DA
D000328:Adult; D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism / Q000627:therapeutic use*; D002585:Cesarean Section; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy* / Q000235:genetics; D011256:Pregnancy Outcome; D014803:Vitamin B Complex / Q000378:metabolism / Q000627:therapeutic use; D014804:Vitamin B Deficiency / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics
D014803:Vitamin B Complex; D002331:Carnitine