ReviewReviews in endocrine & metabolic disorders2018
Impact of pregnancy on inborn errors of metabolism.
Review in Reviews in endocrine & metabolic disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 48 citations in OpenAlex.
- Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations.Orphanet journal of rare diseases · 2026Review
- Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia.JIMD reports · 2026Article
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- An encyclopedia of the cord blood metabolome reveals maternal-fetal interactions and disease risk.Cell reports. Medicine · 2026Article
- Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects.Molecular reproduction and development · 2026Review
- Association Between Haemoglobin Variant Phenotypes and Red Blood Cell Parameters Among Pregnant Women: A Hospital-Based Cross-Sectional Study in Ghana.BioMed research international · 2026Article
- The multifaceted challenges faced by women in the field of inherited metabolic disorders.Orphanet journal of rare diseases · 2025Review
- A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.Cureus · 2024Article
- Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.International journal of neonatal screening · 2024Article
- Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review.International journal of molecular sciences · 2023Review
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.JIMD reports · 2023Article
- Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.Journal of clinical medicine · 2023Review
- Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.BMJ case reports · 2023Article
- Review
- Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.Molecular genetics and metabolism reports · 2022Article
- Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.Molecular genetics and metabolism reports · 2022Article
- Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.Molecular genetics and metabolism reports · 2022Article
- Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.Frontiers in genetics · 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
- The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study.Journal of patient-reported outcomes · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.
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What OpenQuestion holds
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.