TY - JOUR
T1 - Long-chain l-3-hydroxyacyl-coenzyme a dehydrogenase deficiency
T2 - A molecular and biochemical review
AU - Rakheja, Dinesh
AU - Bennett, Michael J.
AU - Rogers, Beverly B.
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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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U2 - 10.1097/01.LAB.0000021175.50201.46
DO - 10.1097/01.LAB.0000021175.50201.46
M3 - Review article
C2 - 12118083
AN - SCOPUS:0036311337
SN - 0023-6837
VL - 82
SP - 815
EP - 824
JO - Laboratory Investigation
JF - Laboratory Investigation
IS - 7
ER -