Related Experiment Videos
Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review
Dinesh Rakheja1, Michael J Bennett, Beverly B Rogers
1Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. drakheja@hotmail.com
Insights
Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency shows varied genetic and clinical presentations. It is notably linked to serious pregnancy complications like preeclampsia and HELLP syndrome.
Area of Science:
- Biochemistry
- Genetics
- Obstetrics
Background:
- Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is a rare metabolic disorder.
- Recent research highlights its significant genetic and phenotypic diversity.
Purpose of the Study:
- To review the biochemical and molecular underpinnings of LCHAD deficiency.
- To detail the clinical manifestations, diagnostic approaches, and management strategies for LCHAD deficiency.
Main Methods:
- Literature review of studies on LCHAD deficiency.
- Analysis of reported cases and clinical data.
Main Results:
- Demonstrated heterogeneity in LCHAD deficiency phenotypes and genotypes.
- Established strong associations between LCHAD deficiency and pregnancy-specific disorders such as preeclampsia, HELLP syndrome, hyperemesis gravidarum, acute fatty liver of pregnancy, and placental abnormalities.
Conclusions:
- LCHAD deficiency presents a complex clinical picture with considerable variability.
- Its association with adverse pregnancy outcomes underscores the importance of early diagnosis and management in affected women.
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.