| Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy. | |
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MedLine Citation:
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PMID: 11978893 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Acute fatty liver of pregnancy (AFLP) is a rare and dreaded complication of pregnancy, almost exclusively seen in the third trimester. The histopathologic features of AFLP closely resemble those seen in metabolic disorders characterized by deficiency of fatty acid oxidative enzymes. Several reports have established a strong association between AFLP in the mother and fetal deficiency of the enzyme long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD). However, these studies have an inevitable selection bias resulting from ascertainment through an affected infant, rather than an unselected population of patients with AFLP. We retrospectively examined a series of 10 women with pregnancies complicated by AFLP to determine the prevalence of the common LCHAD mutation (G1528C) in this population. The existing LCHAD primers, which produce a 640-bp amplicon (IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ: J Clin Invest 98:1028-1033, 1996), were modified to make them amenable to analysis of fragmented DNA obtained from microdissected formalin-fixed material. None of the patients were found to harbor the common G1528C mutation. It is likely that AFLP arising in the context of fetal LCHAD deficiency represents only one of the possible etiologies for this uncommon disorder, and the metabolic basis of AFLP is more heterogeneous than previously believed. |
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Authors:
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Anibran Maitra; Rana Domiati-Saad; Nicole Yost; Gary Cunningham; Beverly Barton Rogers; Michael J Bennett |
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21817183 - Antiviral therapy for hepatitis b infection during pregnancy and breastfeeding. 7193393 - Acute pancreatitis in pregnancy. report of two cases. 19856263 - Perinatal outcomes in isolated single umbilical artery. |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Pediatric research Volume: 51 ISSN: 0031-3998 ISO Abbreviation: Pediatr. Res. Publication Date: 2002 May |
Date Detail:
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Created Date: 2002-04-29 Completed Date: 2002-10-25 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: United States |
Other Details:
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Languages: eng Pagination: 658-61 Citation Subset: IM |
Affiliation:
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Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxyacyl CoA Dehydrogenases
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deficiency,
genetics* Acute Disease Adult Amino Acid Substitution* DNA Mutational Analysis Fatty Liver / enzymology*, epidemiology, genetics Female Humans Mitochondria / enzymology Multienzyme Complexes / genetics* Mutation, Missense* Point Mutation* Pregnancy Pregnancy Complications / enzymology*, epidemiology Protein Subunits Retrospective Studies Texas / epidemiology |
| Chemical | |
Reg. No./Substance:
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0/Multienzyme Complexes; 0/Protein Subunits; 0/fatty acid beta-oxidation multienzyme complex; EC 1.1.1.211/long-chain 3-hydroxyacyl CoA dehydrogenase; EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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