Fatty acid oxidation disorders: maternal health and neonatal outcomes

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

a Division of Gastroenterology and Hepatology, University of Missouri–Columbia, Columbia, Missouri, USA

b Harry S. Truman Memorial Veterans Medical Center, University of Missouri–Columbia, Columbia, Missouri, USA

c 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.

PII: S1744-165X(09)00106-1

doi:10.1016/j.siny.2009.10.006

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