Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Turk J Med Sci. 2017 Feb 27;47(1):260-267. doi: 10.3906/sag-1506-105.
BACKGROUND/AIM: Autism 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.
This 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.
The 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.
The 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.
背景/目的：自闭症是一种异质性神经发育障碍。本研究旨在使用阳离子交换色谱法结合茚三酮柱后衍生化来评估氨基酸谱分析在自闭症中的临床意义。
本研究纳入了 42 名自闭症儿童和 26 名貌似健康的儿童。所有参与者均接受了使用阳离子交换色谱法结合茚三酮柱后衍生化的血浆氨基酸（必需、非必需和非标准）分析。
自闭症儿童的大多数必需氨基酸水平明显低于对照组。至于非必需氨基酸，自闭症儿童的血浆半胱氨酸、酪氨酸和丝氨酸水平显著降低，而谷氨酸水平显著升高。最后，与对照组相比，自闭症组的α-氨基己二酸、肌肽和β-丙氨酸水平显著降低，羟脯氨酸、磷酸丝氨酸、β-氨基异丁酸和氨水平显著升高。
本研究表明自闭症儿童的血浆中存在一些氨基酸水平的明显改变，这些改变可能参与疾病的发病机制，并可作为自闭症早期检测的诊断工具。
