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

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.

• Authors: Dinesh Rakheja, Michael J Bennett, Beverly B Rogers
• Journal: Laboratory investigation; a journal of technical methods and pathology (Lab Invest) Vol. 82 Issue 7 Pg. 815-24 (Jul 2002) ISSN: 0023-6837 [Print] United States
• PMID: 12118083 (Publication Type: Journal Article, Review)

Chemical References

• Fatty Acids, Nonesterified
• Fatty Acid Desaturases
• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• 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)