European Journal of Pediatrics

, Volume 168, Issue 1, pp 103–106 | Cite as

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

  • Carolina Gutiérrez Junquera
  • Elena Balmaseda
  • Esther Gil
  • Andrés Martínez
  • Moisés Sorli
  • Isabel Cuartero
  • Begoña Merinero
  • Magdalena Ugarte
Short Report

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.

Keywords

Acute fatty liver of pregnancy HELLP syndrome Fatty acid oxidation disorders LCHAD deficiency 

Abbreviations

HELLP syndrome

Hemolysis, elevated liver enzymes, and low platelet count syndrome

AFLP

Acute fatty liver of pregnancy

LCHAD

Long-chain 3-hydroxiacyl-coenzyme A dehydrogenase

MTP

Mitochondrial trifunctional protein

AST

Aspartate aminotransferase

ALT

Alanine aminotransferase

LDH

Lactate dehydrogenase

APTT

Activated partial thromboplastin time

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Carolina Gutiérrez Junquera
    • 1
  • Elena Balmaseda
    • 1
  • Esther Gil
    • 1
  • Andrés Martínez
    • 1
  • Moisés Sorli
    • 1
  • Isabel Cuartero
    • 1
  • Begoña Merinero
    • 2
  • Magdalena Ugarte
    • 2
  1. 1.Servicio de Pediatría, Complejo Hospitalario Universitario de AlbaceteUniversidad de Castilla La-ManchaAlbaceteSpain
  2. 2.Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad CienciasUniversidad Autónoma de MadridMadridSpain

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