Background: Autism spectrum disorders (ASD) as a considerable health obstacle in kids characterized by compromised social collaboration, and stereotyped behavior. Autism is triggered by an interaction of environmental and genetic influences. It is assumed that some inborn errors of metabolism are implicated in a sector of developmental disabilities. Also, a number of trace elements may have an important role in human behavior and neurological development. This study was designed to verify the frequency of inherited metabolic disorders and /or trace element abnormalities in children with ASD.
Methods: In a retrospective analytical study, 320 children diagnosed with ASD according to the DSM-V criteria and Childhood Autism Rating Scale criteria were enrolled in this study. Serum ammonia, blood lactate, and arterial blood gases, plasma amino acid profile by tandem mass spectrophotometry, and a urinary organic acid assay was performed in all patients. Likewise, the estimation of a number of trace elements in the form of serum lead, mercury, copper, and plasma zinc was done in all patients.
Results: A total of 320 children with ASD, inherited metabolic disorders were identified in eight (2.5%) patients as follows: seven (2.19) patients with phenylketonuria, and only one (0.31%) patient with glutaric aciduria type 1. As regards the trace element deficiency, sixteen (5%) patients had low plasma zinc level, five (1.56%) children had a high serum copper level, two (0.62%) children had a high serum lead level and only one (0.31%) autistic child had high serum mercury level. EEG abnormalities were reported in 13.12% and MRI abnormalities in 8.43% of cases.
Conclusion: Screening for metabolic diseases and trace elements is required in any child with ASD even no apparent clinical attributes of metabolic complaints and trace elements discrepancies.