| Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. | |
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MedLine Citation:
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PMID: 18408953 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Here we report a 7-month-old girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency with hypoketotic hypoglycemia; the mother had a history of acute fatty liver in a previous pregnancy leading to fetal death at 34 weeks of gestation. The misense mutation 1528G > C was detected in both alleles in the proband and in one allele in both parents. We emphasize that screening for fatty acid oxidation disorders and specifically LCHAD deficiency should be performed in newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe or recurrent HELLP syndrome. |
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Authors:
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Carolina Gutiérrez Junquera; Elena Balmaseda; Esther Gil; Andrés Martínez; Moisés Sorli; Isabel Cuartero; Begoña Merinero; Magdalena Ugarte |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-04-12 |
Journal Detail:
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Title: European journal of pediatrics Volume: 168 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2008-11-26 Completed Date: 2009-04-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 103-6 Citation Subset: IM |
Affiliation:
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Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Universidad de Castilla La-Mancha, Albacete, Spain. cgutierrezj@telefonica.net |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxyacyl CoA Dehydrogenases
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deficiency*,
genetics* Acute Disease Alleles Blood Transfusion Cardiomyopathies / ultrasonography Fatty Liver / diagnosis* Female Gene Expression / genetics Humans Infant Metabolism, Inborn Errors / diagnosis*, genetics, therapy Pregnancy Pregnancy Complications |
| Chemical | |
Reg. No./Substance:
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EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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