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Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environm...
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/PMC10138025/ https://www.ncbi.nlm.nih.gov/pubmed/37107561 http://dx.doi.org/10.3390/genes14040803 |
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author | Senarathne, Udara D. Indika, Neluwa-Liyanage R. Jezela-Stanek, Aleksandra Ciara, Elżbieta Frye, Richard E. Chen, Cliff Stepien, Karolina M. |
author_facet | Senarathne, Udara D. Indika, Neluwa-Liyanage R. Jezela-Stanek, Aleksandra Ciara, Elżbieta Frye, Richard E. Chen, Cliff Stepien, Karolina M. |
author_sort | Senarathne, Udara D. |
collection | PubMed |
description | Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects. An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life. |
format | Online Article Text |
id | pubmed-10138025 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101380252023-04-28 Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders Senarathne, Udara D. Indika, Neluwa-Liyanage R. Jezela-Stanek, Aleksandra Ciara, Elżbieta Frye, Richard E. Chen, Cliff Stepien, Karolina M. Genes (Basel) Review Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects. An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life. MDPI 2023-03-27 /pmc/articles/PMC10138025/ /pubmed/37107561 http://dx.doi.org/10.3390/genes14040803 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 Senarathne, Udara D. Indika, Neluwa-Liyanage R. Jezela-Stanek, Aleksandra Ciara, Elżbieta Frye, Richard E. Chen, Cliff Stepien, Karolina M. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title | Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title_full | Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title_fullStr | Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title_full_unstemmed | Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title_short | Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders |
title_sort | biochemical, genetic and clinical diagnostic approaches to autism-associated inherited metabolic disorders |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138025/ https://www.ncbi.nlm.nih.gov/pubmed/37107561 http://dx.doi.org/10.3390/genes14040803 |
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