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01-01-2009 | Short Report

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

Authors: Carolina Gutiérrez Junquera, Elena Balmaseda, Esther Gil, Andrés Martínez, Moisés Sorli, Isabel Cuartero, Begoña Merinero, Magdalena Ugarte

Published in: European Journal of Pediatrics | Issue 1/2009

Abstract

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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Title: Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency
Authors: Carolina Gutiérrez Junquera
Elena Balmaseda
Esther Gil
Andrés Martínez
Moisés Sorli
Isabel Cuartero
Begoña Merinero
Magdalena Ugarte
Publication date: 01-01-2009
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 1/2009
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0696-z

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Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

Abstract

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Abstract

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