Related Experiment Video
Updated: Mar 23, 2026
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
Plasma amino acid profile in autism spectrum disorder (ASD)
1Department of Pediatrics and Division of Pediatric Endocrinology; Medical School, Yüzüncü Yil University, Van, Turkey. kezibanaslibulan@gmail.com.
Insights
Children with autism spectrum disorder (ASD) show altered plasma amino acid levels and lower vitamin B12 and D. These findings suggest potential pathophysiologic mechanisms and therapeutic targets for ASD.
Area of Science:
- Biochemistry
- Neuroscience
- Pediatrics
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
- Pathophysiologic mechanisms underlying ASD require further elucidation.
- Altered biochemical profiles may offer insights into ASD etiology.
Purpose of the Study:
- To investigate plasma amino acid levels in children with ASD compared to healthy controls.
- To examine the association between vitamin B12 and D levels and ASD.
- To identify potential biomarkers and therapeutic targets for ASD.
Main Methods:
- A case-control study involving 21 children with ASD and 21 age- and sex-matched healthy controls.
- Plasma amino acid levels were measured and compared between groups.
- Vitamin B12 and D levels were assessed, and their influence on amino acid differences was analyzed.
Main Results:
- Significant differences in plasma levels of ammonium, phosphoethanolamine, histidine, homocysteine, carnosine, methionine, cystathionine, cystine, threonine, 3-methyl histidine, and phenylalanine/tyrosine ratio were observed in children with ASD.
- Vitamin B12 and D levels were significantly lower in the ASD group.
- After adjusting for vitamin B12 and D, phosphoethanolamine, cystathionine, cystine, and threonine remained significantly different.
Conclusions:
- Specific amino acid alterations and reduced vitamin B12 and D levels are associated with ASD in children.
- These findings highlight the potential role of amino acid metabolism and vitamin deficiencies in ASD pathophysiology.
- Further research is warranted to explore the etiological and therapeutic implications of these biochemical variations in ASD.
Objective:
In our study, we aimed to reveal pathophysiologic mechanisms in ASD by comparing plasma amino acid levels between patients and healthy controls while considering vitamin B12 and D levels.
Patients And Methods:
The study included 21 patients aged 2-18 years-old who were followed with a diagnosis autism spectrum disorder (ASD) and 21 age and sex-matched healthy children from our outpatient clinic as control group.
Results:
The study included 42 children and adolescents aged 2-18 years-old (19 girls and 23 boys). There were no significant differences in terms of body weight and height between the groups. We found significant differences in levels of ammonium, phosphoethanolamine, histidine, homocysteine, carnosine, methionine, cystathionine, cystine, threonine, 3-methyl histidine and phenylalanine/tyrosine ratio between patient and control groups. Both vitamin B12 and D were significantly lower in the ASD group compared to controls. In the variance analysis with vitamin B12 and D as covariates, significant differences persisted for only phosphoethanolamine (p=0.04), cystathionine (p<0.001), cystine (p=0.006) and threonine (p=0.02).
Conclusions:
Further studies are needed on the amino acids that show variations in children with ASD in order to reveal their role in the etiology and therapeutic use in ASD.
Related Concept Videos
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:21Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
01:20Inborn Errors of Metabolism