Advances in Understanding the Impact of Pregnancy in Inherited Metabolic Disorders

A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".

Deadline for manuscript submissions: closed (20 November 2024) | Viewed by 4985

Special Issue Editor


E-Mail Website
Guest Editor
1. School of Medical Sciences, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester M13 9PL, UK
2. The All Wales Inherited Metabolic Disease Service, Department of Metabolic Medicine, University Hospital of Wales, Cardiff CF14 4XW, UK
Interests: inherited metabolic disorders (IMD); nutrition science; phytochemicals; endocrinology; metabolism; pregnancy and IMD

Special Issue Information

Dear Colleagues,

Inherited metabolic disorders (IMD), or inborn errors of metabolism (IEM), largely evolved from paediatrics and represent an emerging specialty in adult medicine. Reduced childhood morbidity and mortality, alongside the enhanced application of diagnostic techniques and screening, therapeutic advances, and greater awareness of rare metabolic disorders, all contribute to the ongoing growth in this field.

Consequently, the impact of pregnancy on IMD requires delineating, as reproductive options are considered.

The scope of this Special Issue of Metabolites is, thus, broad and aims to encompass the following:

  • Fertility in adults with IMD;
  • Family planning and reproductive options in IMD;
  • Inheritance patterns in IMD: implications for pregnancy planning;
  • Foeto-maternal medicine and IMD;
  • Clinical experience of pregnancy in specific IMDs and subtypes;
  • Postpartum issues in IMD;
  • Influences of IMD on lactation: maternal and neonatal aspects;
  • Offspring of IMD mothers: long-term outcomes of IMD pregnancies.

Dr. Gisela Wilcox
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Metabolites is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pregnancy
  • inborn errors of metabolism
  • inherited metabolic disorders
  • urea cycle disorders
  • mitochondrial function
  • foeto-maternal medicine
  • fatty acid oxidation
  • amino acid disorders
  • phenylketonuria
  • glycogen storage diseases
  • lysosomal storage disorders
  • lactation
  • postpartum

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Review

20 pages, 562 KiB  
Review
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
by Loai A. Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty and Eileen P. Treacy
Metabolites 2023, 13(4), 518; https://doi.org/10.3390/metabo13040518 - 4 Apr 2023
Cited by 3 | Viewed by 4060
Abstract
Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways. These enzymatic defects lead to an accumulation of organic acids in different tissues and [...] Read more.
Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways. These enzymatic defects lead to an accumulation of organic acids in different tissues and their subsequent excretion in urine. Organic acidurias include maple syrup urine disease, propionic aciduria, methylmalonic aciduria, isovaleric aciduria, and glutaric aciduria type 1. Clinical features vary between different organic acid disorders and may present with severe complications. An increasing number of women with rare IMDs are reporting successful pregnancy outcomes. Normal pregnancy causes profound anatomical, biochemical and physiological changes. Significant changes in metabolism and nutritional requirements take place during different stages of pregnancy in IMDs. Foetal demands increase with the progression of pregnancy, representing a challenging biological stressor in patients with organic acidurias as well as catabolic states post-delivery. In this work, we present an overview of metabolic considerations for pregnancy in patients with organic acidurias. Full article
Show Figures

Figure 1

Back to TopTop