• Mona Mohamed Zaki, Hala Abdel-Al, and Mohamed Al-Sawi.
• Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
• Turk J Med Sci. 2017 Feb 27; 47 (1): 260-267.

Background/AimAutism is a heterogeneous neurodevelopmental disorder. This study aimed to assess the clinical significance of amino acid profile assay in autism using cation-exchange chromatography with ninhydrin postcolumn derivatization.Materials And MethodsThis study included 42 autistic children and 26 apparently healthy children. All participants were subjected to the assay of plasma amino acids (essential, nonessential, and nonstandard) using cation-exchange chromatography with postcolumn derivatization by ninhydrin.ResultsThe levels of most of the essential amino acids were significantly lower in autistic children than controls. As regards nonessential amino acids, significantly lower levels for plasma cysteine, tyrosine, and serine and significantly higher levels for plasma glutamic acid were recorded in autistic children than controls. Finally, the autistic group demonstrated significantly lower levels of α-aminoadipic acid, carnosine, and β-alanine and significantly higher levels of hydroxyproline, phosphoserine, β-amino-isobutyric acid, and ammonia as compared to controls.ConclusionThe study revealed that autistic children exhibit distinct alterations in the plasma levels of some amino acids, which can in turn participate in the disease etiology and can be applied as a diagnostic tool for early detection of autism.

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