Review article
https://doi.org/10.26800/LV-146-supl1-22
Autism spectrum disorder – what are the relations with inherited metabolic diseases?
Silvija Pušeljić
orcid.org/0000-0002-9500-2185
*
Nora Pušeljić
Ema Poznić
orcid.org/0000-0002-9705-4384
Višnja Tomac
orcid.org/0000-0002-3715-8413
Luka Perić
orcid.org/0000-0001-5124-1443
* Corresponding author.
Abstract
Autism spectrum disorder (ASD) is a complex neurobiological disorder that begins in early childhood and is characterized by difficulties in social interaction, communication with limited, repetitive patterns of behavior. It has a wide spectrum of different symptoms. Epidemiological studies suggested a trend of strong growth in the annual prevalence of ASD. The genetic basis of the disease is defined in about 10–20% of patients. The etiological basis of ASD is the subject of numerous studies, and during the last twenty years the focus of many studies has been on the mechanisms of epigenetic dysregulation. According to today’s knowledge, ASD is a multifactorial
disease, which arises as a result of the interaction of various genetic and environmental factors. These factors affect specific neuronal circuits, oxidative stress, neuroinflammation, mitochondrial dysfunction. This disrupts the development of the nervous system, the formation of synapses, the connection between brain regions and the size of the brain. The non-syndromic form of ASD refers to individuals who, apart from the clinical elements of ASD, have no other associated features. The prevalence of hereditary metabolic diseases associated with nonsyndromic ASD is low (<0.5%) and therefore indicates a low cost-effectiveness of systemic metabolic treatment. The main biochemical mechanisms proposed in ASD include mitochondrial dysfunction, oxidative stress, impaired methylation capacity, and altered amino acid metabolism. Metabolomic diagnostics can monitor rapid daily variations in metabolic processes, which can assess the complex relationship between the etiology of the disease and the physiology of the organism, providing a comprehensive functional phenotype, but the application of
metabolomic analyzes in clinical practice is still far from being used in clinical diagnostic routine.
Keywords
AUTISM; INHERITED METABOLIC DISEASES; GENETICS; EPIGENETICS
Hrčak ID:
315836
URI
Publication date:
11.4.2024.
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