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Article

Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.

Journal of perinatal medicine - 1 Jan 2007

Mütze Sabine, Ahillen Ines, Rudnik-Schoeneborn Sabine, Eggermann Thomas, Leeners Brigitte, Neumaier-Wagner Peruka M, Kuse Sabine, Rath Werner, Zerres Klaus

Abstract excerpt

OBJECTIVE: An association between maternal HELLP syndrome and fetal long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has been proposed. LCHAD catalyzes the third step in the beta-oxidation of fatty acids in mitochondria. Whereas about 75% of LCHAD-deficient patients carry a G-to-C mutation at nucleotide position 1528 (Glu474Gln, E474Q) on both chromosomes, compound heterozygosity for E474Q on one...

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Identifiers

PMID: 17313315
DOI: 10.1515/JPM.2007.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.PMID 17313315Read ↗

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