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: 20 May 2024 | Viewed by 3755

Special Issue Editor


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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

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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

Published Papers (1 paper)

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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 - 04 Apr 2023
Cited by 1 | Viewed by 3000
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
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