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Lab Invest. 2002 Jul;82(7):815-24.

Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review.

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  • 1Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. drakheja@hotmail.com

Abstract

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.

PMID:
12118083
[PubMed - indexed for MEDLINE]
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