Randazzo Martina, Prato Adriana, Messina MariaAnna, Meli Concetta, Casabona Antonino, Rizzo Renata, Barone Rita
Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Referral Centre for Inherited Metabolic Disorders, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Children (Basel). 2023 Feb 20;10(2):412. doi: 10.3390/children10020412.
Biological bases of autism spectrum disorder (ASD) include both genetic and epigenetic causes. Patients with ASD show anomalies in the profile of certain plasma amino acids, including neuroactive amino acids. Monitoring plasma amino acids may be relevant for patient care and interventions. We evaluated the plasma amino acid profile in samples extracted from dry blood spots by electrospray ionization-tandem mass spectrometry. Fourteen amino acids and eleven amino acid ratios were examined in patients with ASD and intellectual disability (ID), and neurotypical control subjects (TD). The amino acid profile in the ASD group showed reduced levels of ornithine ( = 0.008), phenylalanine ( = 0.042) and tyrosine ( = 0.013). The statistically significant amino acid ratios were Leu+Val/Phe+Tyr ( = 0.002), Tyr/Leu ( = 0.007) and Val/Phe ( = 0.028), such differences remaining significant only in the comparison between ASD and TD. Finally, a positive correlation emerged between the score of the restricted and repetitive behavior on ADOS-2 and the citrulline levels in the ASD group ( = 0.0047). To conclude, patients with ASD may show a distinguishable metabolic profile useful for studying their metabolic pathways in order to develop screening tests and targeted therapies.
自闭症谱系障碍（ASD）的生物学基础包括遗传和表观遗传原因。ASD患者在某些血浆氨基酸（包括神经活性氨基酸）的谱图上显示异常。监测血浆氨基酸可能与患者护理和干预措施相关。我们通过电喷雾电离串联质谱法评估了从干血斑中提取的样本中的血浆氨基酸谱。对ASD和智力残疾（ID）患者以及神经典型对照受试者（TD）的十四种氨基酸和十一种氨基酸比值进行了检测。ASD组的氨基酸谱显示鸟氨酸（P = 0.008）、苯丙氨酸（P = 0.042）和酪氨酸（P = 0.013）水平降低。具有统计学意义的氨基酸比值为亮氨酸+缬氨酸/苯丙氨酸+酪氨酸（P = 0.002）、酪氨酸/亮氨酸（P = 0.007）和缬氨酸/苯丙氨酸（P = 0.028），这些差异仅在ASD与TD的比较中仍然显著。最后，ASD组中ADOS - 2上的受限和重复行为得分与瓜氨酸水平之间出现正相关（P = 0.0047）。总之，ASD患者可能表现出一种可区分的代谢谱，有助于研究其代谢途径，从而开发筛查测试和靶向治疗方法。
