Advertisement

Journal of Inherited Metabolic Disease

, Volume 30, Issue 1, pp 103–103 | Cite as

Acute liver failure in pregnancy associated with maternal MCAD deficiency

  • L. Santos
  • A. Patterson
  • S. M. Moreea
  • C. M. Lippiatt
  • J. Walter
  • M. Henderson
Short Report

Summary

In recent years the association between severe pregnancy complications and fetal fatty acid oxidation (FAO) disorders has been reported. However, there are few descriptions of a maternal FAO disorder leading to these complications. We describe acute liver failure associated with an undiagnosed maternal medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The previously healthy proband presented at the 39th week with an itchy rash, palmar erythema and trace proteinuria; she was admitted onto a maternity ward. Acute fatty liver was suspected from the blood tests and a Caesarean section was performed, delivering a healthy boy. Cord blood samples were taken at delivery as part of an ongoing research project. The analysis of the cord blood sample showed a high concentration of octanoylcarnitine of 2.3 μmol/L (reference <0.1), suggesting a possible fatty acid oxidation disorder. However, subsequent acylcarnitine analyses of the baby's blood showed a normal pattern. The proband was further evaluated by urine organic acids and acylcarnitine profile. Elevated concentrations of hexanoylglycine in urine and octanoylcarnitine in blood spots were found, consistent with a diagnosis of MCAD deficiency. Mutation analyses confirmed that she was homozygous for c.985A>G (K329E). Even though these pregnancy complications are rare and it is not possible to affirm that the proband's acute liver failure was secondary to an undiagnosed MCAD deficiency, it seems likely.

Keywords

Fatty Acid Oxidation Acute Liver Failure Cord Blood Sample Urine Organic Acid Ongoing Research Project 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

10545_2006_ESM_520.pdf (169 kb)
Acute liver failure in pregnancy associated with maternal MCAD deficiency

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • L. Santos
    • 1
  • A. Patterson
    • 1
  • S. M. Moreea
    • 2
  • C. M. Lippiatt
    • 1
  • J. Walter
    • 3
  • M. Henderson
    • 1
  1. 1.Department of Clinical BiochemistrySt James University Hospital LeedsLeedsUK
  2. 2.Department of GastroenterologyBradford Royal InfirmaryBradfordUK
  3. 3.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalManchesterUK

Personalised recommendations