A Case of Glutaric Aciduria Type 1

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real clues to early diagnosis. Acute neuroregression of dystonia following an initial phase of normal or almost normal development is a common mode of presentation, at times preceded by seizures. We experienced a case of glutaric aciduria(type 1) in a 13-month old girl. She was admitted due to development delay and choreoasthetoid movememt that developed after generalized tonic-clonic type seizures. She was diagnosed as having glutaric aciduria(type 1) based on brain MRI and urine organic acid analysis finding.

Glutaric Aciduria Type 1 1례

저자들은 경련 발작후 퇴행성 발달 지연과 무도증 양상의 운동을 보이는 13개월 여아를 두부 자기공명 검사와 소변 유기산 검사를 이용하여 국내 최초로 glutaric aciduria type 1 1례로 진단하였기에 보고하는 바이다.