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Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran
Hossein Moravej1, Soroor Inaloo2, Saman Nahid3
1Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran and Department of Pediatric Endocrinology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Insights
Metabolic screening identified inborn errors of metabolism in 12.4% of Iranian autism spectrum disorder patients. Conditions like creatine deficiency and organic acidurias were found, particularly in those with developmental delays and seizures.
Area of Science:
- Medical Genetics
- Neurodevelopmental Disorders
- Metabolic Disorders
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with diverse etiologies.
- Inborn errors of metabolism (IEMs) are increasingly recognized as potential contributing factors in some individuals with ASD.
- Identifying IEMs in ASD patients can inform targeted interventions and genetic counseling.
Purpose of the Study:
- To investigate the prevalence and types of common inborn errors of metabolism in Iranian children and adolescents diagnosed with autism spectrum disorder.
- To identify clinical and demographic factors associated with positive metabolic screening results in this population.
Main Methods:
- A cross-sectional, multicenter study involving 105 Iranian children and adolescents with ASD.
- Comprehensive metabolic screening including plasma amino acids, acylcarnitines, creatine, guanidinoacetate, and urinary organic acids, purines, and pyrimidines.
- Data collection on age, parental consanguinity, seizure history, developmental milestones, and physical examination.
Main Results:
- Inborn errors of metabolism were detected in 13 (12.4%) of the participants.
- Identified IEMs included cerebral creatine deficiency syndrome (4.8%), arginine succinate aciduria (3.8%), 2-methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria.
- Positive metabolic findings were strongly associated with parental consanguinity, a history of seizures, microcephaly, and delayed development.
Conclusions:
- Metabolic screening is recommended for Iranian ASD patients, especially those with parental consanguinity, developmental delay, and a history of seizures.
- A suggested screening panel includes plasma amino acids, acylcarnitines, creatine, guanidinoacetate, and urinary organic acids.
- Early identification of IEMs can potentially lead to improved management strategies for individuals with autism spectrum disorder.
Objective:
This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder.
Methods:
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.
Results:
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.
Conclusions:
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.
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