Skip to main content

Advertisement

SpringerLink
Log in

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

  • Short Report
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

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

References

  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):115–120

    PubMed  CAS  Google Scholar 

  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):826–834

    Article  PubMed  CAS  Google Scholar 

  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):151–154

    Article  PubMed  CAS  Google Scholar 

  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):48–52

    Article  PubMed  CAS  Google Scholar 

  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):1723–1731

    Article  PubMed  CAS  Google Scholar 

  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):76–78

    Article  PubMed  Google Scholar 

  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;544–548

    PubMed  CAS  Google Scholar 

  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):2293–2300

    PubMed  CAS  Google Scholar 

  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):603–608

    Article  PubMed  CAS  Google Scholar 

  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):407–408

    Article  PubMed  CAS  Google Scholar 

  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):715–720

    Article  PubMed  CAS  Google Scholar 

  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):2163–2166

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Universidad de Castilla La-Mancha, Albacete, Spain

    Carolina Gutiérrez Junquera, Elena Balmaseda, Esther Gil, Andrés Martínez, Moisés Sorli & Isabel Cuartero

  2. Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad Ciencias, Universidad Autónoma de Madrid, Madrid, Spain

    Begoña Merinero & Magdalena Ugarte

Authors
  1. Carolina Gutiérrez Junquera
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Elena Balmaseda
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Esther Gil
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Andrés Martínez
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Moisés Sorli
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Isabel Cuartero
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Begoña Merinero
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Magdalena Ugarte
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Carolina Gutiérrez Junquera.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gutiérrez Junquera, C., Balmaseda, E., Gil, E. et al. Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. Eur J Pediatr 168, 103–106 (2009). https://doi.org/10.1007/s00431-008-0696-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-008-0696-z

Keywords

Search

Navigation