关键词: α-酮己二酸尿症, DHTKD1基因, 复合杂合变异, 儿童

Abstract:

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.

Key words: α-ketoadipic aciduria, DHTKD1 gene, compound heterozygous variation, child