Fatty acid oxidation disorders: maternal health and neonatal outcomes

Rector, R. Scott; Ibdah, Jamal A.

doi:10.1016/j.siny.2009.10.006

« Previous Next »Seminars in Fetal & Neonatal Medicine
Volume 15, Issue 3 , Pages 122-128, June 2010

Fatty acid oxidation disorders: maternal health and neonatal outcomes

R. Scott Rector
- Division of Gastroenterology and Hepatology, University of Missouri–Columbia, Columbia, Missouri, USA
- Harry S. Truman Memorial Veterans Medical Center, University of Missouri–Columbia, Columbia, Missouri, USA
Jamal A. Ibdah
- Division of Gastroenterology and Hepatology, University of Missouri–Columbia, Columbia, Missouri, USA
- Harry S. Truman Memorial Veterans Medical Center, University of Missouri–Columbia, Columbia, Missouri, USA
- Department of Medical Pharmacology and Physiology, University of Missouri–Columbia, Columbia, Missouri, USA
- Corresponding author. Division of Gastroenterology and Hepatology, 5 Hospital Drive, CE405 Clinical Support & Education Building, University of Missouri–Columbia, Columbia, MO 65212, USA. Tel.: +1 573 882 0482; fax: +1 573 884 4595.

published online 19 November 2009.

Summary

Mitochondrial fatty acid β-oxidation (FAO) disorders have become an important group of inherited metabolic disorders causing serious pediatric and maternal morbidity and mortality. More than 20 defects affecting β-oxidation have been discovered, characterized by distinct enzyme or transporter deficiencies. This growing number of FAO disorders covers a wide spectrum of phenotypes and are characterized by a wide array of clinical presentations. We discuss the major mitochondrial FAO disorders and the impact they have on maternal health and neonatal outcomes; diagnostic tools and the value of genetic screening are reviewed; and current therapeutic approaches and management strategies are discussed.

Keywords: Mitochondrial fatty acid oxidation, Mitochondrial trifunctional protein, LCHAD deficiency, HELLP syndrome, Acute fatty liver of pregnancy, Inborn errors of metabolism