Abstract: Objective To investigate the significance of expression level of fatty acid metabolic enzymes in the diagnosis of autism. Methods The protein content of fatty acid synthase (FASN), acetyl-CoA carboxylase (ACC), acetyl-CoA synthase 1 (AceCS1) and long chain acyl-CoA synthase 1 (ACSL1) in freshly frozen cerebellum tissues of autistic children were determined by Western blot. The levels of FASN, ACC, AceCS1 and ACSL1 in the peripheral blood of autistic children in China were detected by enzyme-linked immunosorbent assay (ELISA). Results The levels of ACC and FASN in cerebellum and peripheral blood of autistic patients were higher than that of control groups (P＜0.05 or P＜0.01). The expressions of FASN, ACC, ACSL1 and AceCS1 in cerebellum tissue and peripheral blood of patients with autism were positively correlated with the severity of autism (all P＜0.01). Conclusions The severity of autistic symptoms in children is related to the expression changes of fatty acid metabolic enzymes, and the abnormal expression of fatty acid metabolic enzymes may be a group of biomarkers for the diagnosis of autism in children.

Key words: autism, fatty acid, cerebellum, fatty acid synthase, acetyl coenzyme A carboxylase