Journal of Clinical Pediatrics >
Report a case of α-ketoadipic aciduria caused by compound heterozygous variant of DHTKD1 gene
Received date: 2022-04-26
Online published: 2023-08-10
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
Hongxia WANG , Xiang PAN , Jun LU . Report a case of α-ketoadipic aciduria caused by compound heterozygous variant of DHTKD1 gene[J]. Journal of Clinical Pediatrics, 2023 , 41(8) : 624 -628 . DOI: 10.12372/jcp.2023.22e0486
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