α-酮己二酸尿症为赖氨酸、羟赖氨酸和色氨酸降解代谢紊乱所致的遗传代谢病，临床表现轻重不一，受累系统广泛，主要临床表现有生长发育迟缓、肌张力减退、癫痫、共济失调、小头畸形、行为异常等。本例患儿2岁8月龄，表现为抽搐和行为异常，尿有机酸分析示α-酮己二酸明显增高，基因遗传学检测发现DHTKD1基因存在致病复合杂合变异，结合患儿临床特征和遗传学特点，确诊为α-酮己二酸尿症。经低赖氨酸、低蛋白饮食和康复治疗等对症处理后，患儿病情有所改善。该病临床罕见，为国内医学数据库首例报道。本病例报道扩充了α-酮己二酸尿症基因谱，也为临床上该病的诊治提供借鉴与参考。

Alpha-ketoadipic aciduria is a genetic metabolic disease caused by the disorder of lysine, hydroxylysine and tryptophan degradation metabolism. The clinical manifestations of the disease vary in severity and affect a wide range of systems. The main clinical manifestations include growth retardation, hypotonia, epilepsy, ataxia, microcephaly and abnormal behavior. The patient was 2 years and 8 months old and presented with convulsions and behavioral abnor malities. Urine organic acid analysis showed that α-ketoadipic acid was significantly increased. Genetic testing revealed that DHTKD1 gene had pathogenic compound heterozygous variation. Combined with the clinical and genetic characteristics of the child, the diagnosis of α-ketoadipic aciduria was confirmed. The patient's condition improved after symptomatic treatment with a low lysine and protein diet and rehabilitation. This is the first report of α-ketoadipic aciduria in Chinese medical database, which expands the genetic spectrum of α-ketoadipic aciduria and provides reference for clinical diagnosis and treatment of the disease.