Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?

Mol Genet Metab. 2010 Jun;100(2):204-6. doi: 10.1016/j.ymgme.2010.03.006. Epub 2010 Mar 16.

Abstract

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a mitochondrial fatty acid beta-oxidation defect characterized by accumulation of long-chain hydroxyacylcarnitine intermediates and female carriers of this disorder are in risk for pregnancy complications. We found elevated blood long-chain hydroxyacylcarnitine species in a carrier of LCHAD deficiency at 31weeks of pregnancy with a LCHAD deficient fetus during acute fatty liver of pregnancy-like liver involvement, but had been within the normal range at 25weeks of pregnancy. This finding supports the hypothesis of acylcarnitine accumulation in pathogenesis of AFLP in carriers of LCHAD and MTP deficiencies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • Acute Disease
  • Adult
  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Fatty Liver / genetics
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / genetics
  • Liver Diseases / genetics
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
  • Mitochondrial Trifunctional Protein
  • Multienzyme Complexes / genetics
  • Pregnancy
  • Pregnancy Complications / etiology
  • Pregnancy Complications / genetics*
  • Pregnancy Trimester, Third

Substances

  • Multienzyme Complexes
  • acylcarnitine
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
  • Mitochondrial Trifunctional Protein
  • Carnitine