ArticleJournal of inherited metabolic disease2012
A series of pregnancies in women with inherited metabolic disease.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Awareness and knowledge of obstetricians about prenatal findings of inherited metabolic disorders.Scientific reports · 2026Article
- Pregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.O&G open · 2026Article
- Article
- Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.Molecular genetics and metabolism reports · 2024Article
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.JIMD reports · 2023Article
- Review
- Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.Nutrients · 2023Review
- Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.Journal of inherited metabolic disease · 2022Article
- Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations.Case reports in women's health · 2022Article
- Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.Diagnostics (Basel, Switzerland) · 2022Article
- Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature.Children (Basel, Switzerland) · 2021Review
- Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy.BMJ case reports · 2021Article
- Physical, cognitive, and social status of patients with urea cycle disorders in Japan.Molecular genetics and metabolism reports · 2021Article
- Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.Medicina (Kaunas, Lithuania) · 2021Article
- The first study of successful pregnancies in Chinese patients with Phenylketonuria.BMC pregnancy and childbirth · 2020Article
- The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.Orphanet journal of rare diseases · 2020Article
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Orphanet journal of rare diseases · 2020Article
- Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.Metabolic brain disease · 2018Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.