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.

Additional Metadata
Persistent URL,
Journal Journal of Inherited Metabolic Disease
Langendonk, J.G, Roos, J.C, Angus, L, Williams, M, Karstens, F.P, de Klerk, J.B.C, … Murphy, E. (2011). A series of pregnancies in women with inherited metabolic disease. Journal of Inherited Metabolic Disease, 1–6. doi:10.1007/s10545-011-9389-2