All issues > Volume 45(10); 2002

Case Report

J Korean Pediatr Soc. 2002;45(10):1278-1282. Published online October 15, 2002.

A Case of Glutaric Aciduria Type 1

Joon Young JY Song¹, Cheol Min CM Kim¹, Young Lim YL Shin¹, Han Wook HW Yoo¹

¹Departmemt of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea

Correspondence Han Wook HW Yoo ,Email: hwyoo@www.amc.seoul.kr

Abstract

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.

Keywords :Glutaric aciduria type 1, Macrocephaly, Neuroregression