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While carrying fetuses with the Glu474Gln mutation, 79 percent of the heterozygous mothers had fatty liver of pregnancy or the HELLP syndrome. Five other children, who presented with neonatal dilated cardiomyopathy or progressive neuromyopathy, had complete deficiency progesterone of the trifunctional protein (loss of activity of all three enzymes). None had the Glu474Gln mutation, and none of their mothers had liver disease during pregnancy. CONCLUSIONS: Women with acute liver disease during pregnancy may have progesterone a Glu474Gln mutation in long-chain hydroxyacyl-CoA dehydrogenase. Their infants are at risk for hypoketotic hypoglycemia and fatty liver.MeSH Terms: 3-Hydroxyacyl CoA Dehydrogenases/genetics Acute Disease DNA Mutational Analysis Fatty Acids/metabolism* Fatty Liver/etiology* Female Fetal Diseases/genetics* Genotype HELLP Syndrome/etiology* Humans Infant Infant, Newborn Lipid Metabolism, Inborn Errors/complications* Lipid Metabolism, Inborn Errors/genetics Mitochondria/metabolism Multienzyme Complexes/deficiency* Multienzyme Complexes/genetics Mutation Oxidation-Reduction Pregnancy Pregnancy Complications/etiology* Research Support, Non-U.S.
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