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


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.


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


HELLP syndrome

Hemolysis, elevated liver enzymes, and low platelet count syndrome


Acute fatty liver of pregnancy


Long-chain 3-hydroxiacyl-coenzyme A dehydrogenase


Mitochondrial trifunctional protein


Aspartate aminotransferase


Alanine aminotransferase


Lactate dehydrogenase


Activated partial thromboplastin time


  1. 1.
    Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE (2006) Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol 107(1):115–120PubMedGoogle Scholar
  2. 2.
    Chakrapani A, Olpin S, Cleary M, Walter JH, Wraith JE, Besley GT (2000) Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation. J Inherit Metab Dis 23(8):826–834PubMedCrossRefGoogle Scholar
  3. 3.
    den Boer ME, Ijlst L, Wijburg FA, Oostheim W, van Werkhoven MA, van Pampus MG, Heymans HS, Wanders RJ (2000) Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res 48(2):151–154PubMedCrossRefGoogle Scholar
  4. 4.
    Holub M, Bodamer OA, Item C, Muhl A, Pollak A, Stockler-Ipsiroglu S (2005) Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? Acta Paediatr 94(1):48–52PubMedCrossRefGoogle Scholar
  5. 5.
    Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340(22):1723–1731PubMedCrossRefGoogle Scholar
  6. 6.
    Mutze S, Ahillen I, Rudnik-Schoeneborn S, Eggermann T, Leeners B, Neumaier-Wagner PM, Kuse S, Rath W, Zerres K (2007) Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. J Perinat Med 35(1):76–78PubMedCrossRefGoogle Scholar
  7. 7.
    Schoeman MN, Batey RG, Wilcken B (1991) Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring. Gastroenterology 100;544–548PubMedGoogle Scholar
  8. 8.
    Treem WR, Shoup ME, Hale DE, Bennett MJ, Rinaldo P, Millington DS, Stanley CA, Riely CA, Hyams JS (1996) Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol 91(11):2293–2300PubMedGoogle Scholar
  9. 9.
    Tyni T, Ekholm E, Pihko H (1998) Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 178(3):603–608PubMedCrossRefGoogle Scholar
  10. 10.
    Wilcken B, Leung KC, Hammond J, Kamath R, Leonard JV (1993) Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 341(8842):407–408PubMedCrossRefGoogle Scholar
  11. 11.
    Yang Z, Zhao Y, Bennett MJ, Strauss AW, Ibdah JA (2002) Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. Am J Obstet Gynecol 187(3):715–720PubMedCrossRefGoogle Scholar
  12. 12.
    Yang Z, Yamada J, Zhao Y, Strauss AW, Ibdah JA (2002) Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. JAMA 288(17):2163–2166PubMedCrossRefGoogle Scholar

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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