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- Title
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.
- Authors
Senarathne, Udara D.; Indika, Neluwa-Liyanage R.; Jezela-Stanek, Aleksandra; Ciara, Elżbieta; Frye, Richard E.; Chen, Cliff; Stepien, Karolina M.
- Abstract
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.
- Subjects
GENETIC disorders; METABOLIC disorders; LYSOSOMAL storage diseases; BODY fluid analysis; AUTISM spectrum disorders; BODY fluids
- Publication
Genes, 2023, Vol 14, Issue 4, p803
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes14040803