Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?
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.
Eskelin
Petra M
PM
Department of Pediatric Neurology, Helsinki University Central Hospital, Helsinki, Finland.
Laitinen
Kalevi A
KA
Tyni
Tiina A
TA
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000208:Acute Disease; D000328:Adult; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D005234:Fatty Liver / Q000235:genetics; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D008107:Liver Diseases / Q000235:genetics; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology / Q000235:genetics*; D011263:Pregnancy Trimester, Third
D009097:Multienzyme Complexes; C116917:acylcarnitine; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D063991:Mitochondrial Trifunctional Protein; D002331:Carnitine