title: A series of pregnancies in women with inherited metabolic disease.
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.
authors.affiliation: Centre for Lysosomal and Metabolic diseases, Departments of Internal Medicine and Pediatrics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Janneke G
authors.initials: JG
authors.lastname: Langendonk
authors.forename: Jonathan C P
authors.initials: JC
authors.lastname: Roos
authors.forename: Lindsay
authors.initials: L
authors.lastname: Angus
authors.forename: Monique
authors.initials: M
authors.lastname: Williams
authors.forename: François P J
authors.initials: FP
authors.lastname: Karstens
authors.forename: Johannes B C
authors.initials: JB
authors.lastname: de Klerk
authors.forename: Charlé
authors.initials: C
authors.lastname: Maritz
authors.forename: Tawfeg
authors.initials: T
authors.lastname: Ben-Omran
authors.forename: Catherine
authors.initials: C
authors.lastname: Williamson
authors.forename: Robin H
authors.initials: RH
authors.lastname: Lachmann
authors.forename: Elaine
authors.initials: E
authors.lastname: Murphy
mesh_terms: D000328:Adult; D036861:Delivery, Obstetric; D005260:Female; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics*; D009774:Obstetrics / Q000379:methods; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000235:genetics; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011256:Pregnancy Outcome; D012306:Risk; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase