Ferraro Simona, Saielli Laura, Biganzoli Davide, Tosi Martina, Guidi Laura, Longo Roberto, Severino Francesca, Carelli Stephana, Rossi Maura, Pisciotta Livia, Ricci Emilia, Brustia Francesca, Verduci Elvira, Zuccotti Gianvincenzo, Mussap Michele, Cereda Cristina
Department of Pediatrics, Buzzi Children's Hospital, 20154 Milan, Italy.
Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, 20154 Milan, Italy.
Nutrients. 2025 Jan 13;17(2):274. doi: 10.3390/nu17020274.
The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children.
We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male). Additionally, we studied AA profiles from 488 children, matched for age and free of ASD (control group). Principal component and cluster analysis were employed to explore potential associations within the ASD group and to identify subgroups.
We observed lower plasma levels of glutamine in children with ASD compared to non-ASD children ( < 0.001). Six essential, two conditionally essential, and four non-essential AA were found to be increased in children with ASD. The clustering analysis revealed two groups, labeled Neurological (NEU) and Nutritional (NUT), which included a majority of ASD children (94% and 78%, respectively). The NEU group exhibited high levels of taurine, aspartate, glutamic acid, and ornithine, while the NUT group showed elevated levels of branched-chain AA.
In children with ASD, we identified some heterogeneous AA patterns that may serve as biochemical signatures of neurological impairment in some individuals, while in others they may indicate nutritional dysregulation.
自闭症谱系障碍（ASD）儿童的血浆氨基酸（AA）代谢已得到广泛研究，但结果尚无定论。本研究旨在描述早期诊断的ASD儿童AA谱的代谢改变，并将结果与非ASD儿童进行比较。
我们分析了1242名ASD儿童（中位年龄 = 4岁；81%为男性）通过离子交换色谱法测量的血浆AA谱。此外，我们研究了488名年龄匹配且无ASD的儿童（对照组）的AA谱。采用主成分分析和聚类分析来探索ASD组内的潜在关联并识别亚组。
我们观察到ASD儿童的血浆谷氨酰胺水平低于非ASD儿童（<0.001）。发现6种必需氨基酸、2种条件必需氨基酸和4种非必需氨基酸在ASD儿童中增加。聚类分析揭示了两组，分别标记为神经型（NEU）和营养型（NUT），其中大多数ASD儿童分别属于这两组（分别为94%和78%）。NEU组表现出高牛磺酸、天冬氨酸、谷氨酸和鸟氨酸水平，而NUT组则表现出支链氨基酸水平升高。
在ASD儿童中，我们确定了一些异质性AA模式，这些模式在某些个体中可能作为神经损伤的生化标志，而在其他个体中可能表明营养失调。
