Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Shakerdi, Loai A., Gillman, Barbara, Corcoran, Emma, McNulty, Jenny, Treacy, Eileen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1785034567181139968
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
work_keys_str_mv AT shakerdiloaia organicaciduriadisordersinpregnancyanoverviewofmetabolicconsiderations
AT gillmanbarbara organicaciduriadisordersinpregnancyanoverviewofmetabolicconsiderations
AT corcoranemma organicaciduriadisordersinpregnancyanoverviewofmetabolicconsiderations
AT mcnultyjenny organicaciduriadisordersinpregnancyanoverviewofmetabolicconsiderations
AT treacyeileenp organicaciduriadisordersinpregnancyanoverviewofmetabolicconsiderations