Publication: Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
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Mütze, S., Ahillen, I., Rudnik-Schoeneborn, S., Eggermann, T., Leeners, B., Neumaier-Wagner, P. M., Kuse, S., Rath, W., & Zerres, K. (2007). Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. Journal of Perinatal Medicine, 35(1), 76–78. https://doi.org/10.1515/jpm.2007.012
Abstract
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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 β-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 chromosome and a second different LCHAD mutation on the other can be observed in up to 25% of LCHAD-deficiency cases; only very fe
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Creators (Authors)
- Mütze, Sabine
- Ahillen, Ines
- Rudnik-Schoeneborn, Sabine
- Eggermann, Thomas
- Leeners, Brigitte
- Neumaier-Wagner, Peruka M
- Kuse, Sabine
- Rath, Werner
- Zerres, Klaus
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Mütze, S., Ahillen, I., Rudnik-Schoeneborn, S., Eggermann, T., Leeners, B., Neumaier-Wagner, P. M., Kuse, S., Rath, W., & Zerres, K. (2007). Neither maternal nor fetal mutation (E474Q) in the α-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. Journal of Perinatal Medicine, 35(1), 76–78. https://doi.org/10.1515/jpm.2007.012
