| Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review. | |
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MedLine Citation:
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PMID: 12118083 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Since the first report of long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency a little more than a decade ago, its phenotypic and genotypic heterogeneity in individuals homozygous for the enzyme defect has become more and more evident. Even more interesting is its association with pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarct of the placenta. In this review we discuss the biochemical and molecular basis, clinical features, diagnosis, and management of long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency. |
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Authors:
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Dinesh Rakheja; Michael J Bennett; Beverly B Rogers |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Laboratory investigation; a journal of technical methods and pathology Volume: 82 ISSN: 0023-6837 ISO Abbreviation: Lab. Invest. Publication Date: 2002 Jul |
Date Detail:
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Created Date: 2002-07-15 Completed Date: 2002-08-08 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0376617 Medline TA: Lab Invest Country: United States |
Other Details:
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Languages: eng Pagination: 815-24 Citation Subset: IM |
Affiliation:
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Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. drakheja@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase, Long-Chain Fatty Acid Desaturases / deficiency*, genetics Fatty Acids, Nonesterified / metabolism Female HELLP Syndrome / enzymology, genetics* Humans Oxidation-Reduction Pregnancy Pregnancy Complications / enzymology |
| Chemical | |
Reg. No./Substance:
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0/Fatty Acids, Nonesterified; EC 1.14.19.-/Fatty Acid Desaturases; EC 1.3.99.13/Acyl-CoA Dehydrogenase, Long-Chain |
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