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Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
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 subsequ...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10146379/ https://www.ncbi.nlm.nih.gov/pubmed/37110176 http://dx.doi.org/10.3390/metabo13040518 |
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author | Shakerdi, Loai A. Gillman, Barbara Corcoran, Emma McNulty, Jenny Treacy, Eileen P. |
author_facet | Shakerdi, Loai A. Gillman, Barbara Corcoran, Emma McNulty, Jenny Treacy, Eileen P. |
author_sort | Shakerdi, Loai A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10146379 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101463792023-04-29 Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations Shakerdi, Loai A. Gillman, Barbara Corcoran, Emma McNulty, Jenny Treacy, Eileen P. Metabolites Review 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. MDPI 2023-04-04 /pmc/articles/PMC10146379/ /pubmed/37110176 http://dx.doi.org/10.3390/metabo13040518 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Shakerdi, Loai A. Gillman, Barbara Corcoran, Emma McNulty, Jenny Treacy, Eileen P. Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title | Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title_full | Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title_fullStr | Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title_full_unstemmed | Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title_short | Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations |
title_sort | organic aciduria disorders in pregnancy: an overview of metabolic considerations |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10146379/ https://www.ncbi.nlm.nih.gov/pubmed/37110176 http://dx.doi.org/10.3390/metabo13040518 |
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