Fatty acid oxidation disorders: maternal health and neonatal outcomes.
Mitochondrial fatty acid beta-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 beta-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.
Rector
R Scott
RS
Division of Gastroenterology and Hepatology, University of Missouri-Columbia, Columbia, Missouri 65212, USA.
Ibdah
Jamal A
JA
D020739:Brain Diseases, Metabolic, Inborn / Q000178:diet therapy / Q000201:enzymology / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000178:diet therapy / Q000201:enzymology / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000178:diet therapy / Q000201:enzymology / Q000378:metabolism*; D015997:Neonatal Screening; D010084:Oxidation-Reduction; D011247:Pregnancy
D005227:Fatty Acids