Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency

Am J Obstet Gynecol. 2005 Jun;192(6):2060-2. doi: 10.1016/j.ajog.2004.11.005.

Abstract

Fetal defects in mitochondrial beta-oxidation have been linked with an increased risk for acute fatty liver of pregnancy and preeclampsia-related conditions. A woman with previously undiagnosed carnitine palmitoyltransferase 1 deficiency experienced hemolysis, elevated liver enzymes, low platelets-like syndrome late in her first pregnancy with an unaffected fetus. Carnitine palmitoyltransferase 1 deficiency should be considered as a potential cause of life-threatening complications of pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Prenatal Diagnosis*

Substances

  • Carnitine O-Palmitoyltransferase