Journal of Inherited Metabolic Disease

, Volume 35, Issue 3, pp 419–424

A series of pregnancies in women with inherited metabolic disease

  • Janneke G Langendonk
  • Jonathan CP Roos
  • Lindsay Angus
  • Monique Williams
  • François PJ Karstens
  • Johannes BC de Klerk
  • Charlé Maritz
  • Tawfeg Ben-Omran
  • Catherine Williamson
  • Robin H Lachmann
  • Elaine Murphy
Original Article

DOI: 10.1007/s10545-011-9389-2

Cite this article as:
Langendonk, J.G., Roos, J.C., Angus, L. et al. J Inherit Metab Dis (2012) 35: 419. doi:10.1007/s10545-011-9389-2

Abstract

In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant. Several women experienced decompensation of their condition during pregnancy or the post-partum period. There was one maternal death in a women with 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency. Pre-pregnancy counselling and co-management of high risk medical patients by obstetricians and specialist physicians with an understanding of the relationship between pregnancy and inherited metabolic disease is essential.

Supplementary material

10545_2011_9389_MOESM1_ESM.doc (85 kb)
ESM 1(DOC 85 kb)

Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Janneke G Langendonk
    • 1
  • Jonathan CP Roos
    • 2
  • Lindsay Angus
    • 1
  • Monique Williams
    • 1
  • François PJ Karstens
    • 1
  • Johannes BC de Klerk
    • 1
  • Charlé Maritz
    • 2
  • Tawfeg Ben-Omran
    • 3
  • Catherine Williamson
    • 4
  • Robin H Lachmann
    • 2
  • Elaine Murphy
    • 2
  1. 1.Centre for Lysosomal and Metabolic diseasesDepartments of Internal Medicine and Pediatrics, Erasmus MCRotterdamThe Netherlands
  2. 2.Consultant Inherited Metabolic Disease, Charles Dent Metabolic UnitNational Hospital for Neurology and NeurosurgeryLondonUK
  3. 3.Clinical and Metabolic Genetics, Weill Cornell Medical College, Department of PediatricsHamad Medical CorporationDohaQatar
  4. 4.Maternal and Fetal Disease Group, Institute of Reproductive and Developmental BiologyDept. of Surgery and Cancer, Imperial College LondonLondonUK