Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.

This study looked at 105 children with autism in Iran to see if they had metabolic disorders (problems with how the body processes nutrients). They found that 13 children (12.4%) had these disorders, with creatine deficiency being most common. Children were more likely to have metabolic problems if their parents were related, they had seizures, small head size, or developmental delays. The researchers suggest testing for metabolic disorders in autistic children with these warning signs.

This cross-sectional multicenter study examined 105 Iranian children and adolescents with autism spectrum disorder to identify common inborn errors of metabolism. Comprehensive metabolic screening was performed, including plasma amino acids, acylcarnitines, creatine, and guanidinoacetate levels, plus urinary organic acids, purines, and pyrimidines. Results showed 13 patients (12.4%) had identifiable metabolic disorders, with cerebral creatine deficiency syndrome being most common (4.8%), followed by arginine succinate aciduria and other conditions (3.8% each). Strong associations were found between positive metabolic findings and parental consanguinity, seizure history, microcephaly, and developmental delays.

The study recommends metabolic screening for autistic children with these risk factors.

Metabolic screening should be considered for autistic children with parental consanguinity, seizure history, microcephaly, or developmental delays. Recommended screening panel includes plasma amino acids, acylcarnitines, creatine, guanidinoacetate, and urinary organic acids. Early identification of metabolic disorders may enable targeted treatments that could improve outcomes.

Single-country study with specific population characteristics (high consanguinity rates). Cross-sectional design limits understanding of causality. Sample size of 105 is relatively small for establishing prevalence estimates. Study methodology and control groups not clearly described in abstract.

This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder. In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guani-dinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed. Other data, including age, parental consanguinity, history of seizure, developmental mile-stones, and physical examination, were also recorded.

An inborn error of metabolism was found in 13 (12.4%) patients. Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association between positive meta-bolic evaluation and parental consanguinity, history of seizures, microcephaly, and delayed development. Our results suggest that metabolic screening should be performed in the cases of autism associated with parental consanguinity, developmental delay, and a history of seizures.

The assays to be considered as a screening panel include plasma or blood amino acids, acylcarnitines, creatine and guanidinoacetate, and urinary levels of organic acids.