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

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.

• Authors: Kati Ylitalo, Tuomo Vänttinen, Erja Halmesmäki, Tiina Tyni
• Journal: American journal of obstetrics and gynecology (Am J Obstet Gynecol) Vol. 192 Issue 6 Pg. 2060-2 (Jun 2005) ISSN: 0002-9378 [Print] United States
• PMID: 15970898 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carnitine O-Palmitoyltransferase

Topics

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