Liver disease in pregnancy and fetal fatty acid oxidation defects

  • J.A. I
  • Z. Y
  • 1


    Mendeley users who have this article in their library.
  • N/A


    Citations of this article.


Acute fatty liver of pregnancy (AFLP) and the syndrome of hemolysis, elevated liver enzymes, and low platelets (the HELLP syndrome) are serious disorders of the third trimester with high maternal and perinatal morbidity and mortality. Over the past decade, several clinical observations have demonstrated an association between these maternal syndromes and a recessively inherited fatty acid oxidation disorder, long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Many women who carried LCHAD-deficient fetuses developed maternal liver disease. Over the past few years, we and others have made significant progress in understanding the molecular basis for this fetal-maternal interaction. Here, we review the studies in literature that led to the establishment of this causative association with particular emphasis on the molecular analysis that delineated the molecular basis of this association. The likely mechanisms for the genotype-phenotype correlations in pediatric LCHAD deficiency and the fetal-maternal interaction are discussed. Finally, the potential implications of our current knowledge for families with pediatric LCHAD deficiency and for women who develop AFLP and HELLP syndrome are discussed. (C) 2000 Academic Press.

Author-supplied keywords

  • *3 hydroxyacyl coenzyme A dehydrogenase/ec [Endoge
  • *fatty acid oxidation
  • *fatty acid/ec [Endogenous Compound]
  • *fetus disease
  • *liver fatty degeneration/et [Etiology]
  • *metabolic disorder/et [Etiology]
  • *molecular genetics
  • *pregnancy disorder/et [Etiology]
  • HELLP syndrome/et [Etiology]
  • enzyme deficiency/et [Etiology]
  • fetoplacental unit
  • fetus
  • genetic analysis
  • genetic screening
  • human
  • inborn error of metabolism/et [Etiology]
  • mitochondrion
  • pathogenesis
  • phenotype
  • practice guideline
  • priority journal
  • protein analysis
  • short survey

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Ibdah J.A.

  • Yang Z.

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free