A Case of Glutaric Aciduria Type 1.
- Author:
Joon Young SONG
1
;
Cheol Min KIM
;
Young Lim SHIN
;
Han Wook YOO
Author Information
1. Departmemt of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea. hwyoo@www.amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Glutaric aciduria type 1;
Macrocephaly;
Neuroregression
- MeSH:
Brain;
Chromosomes, Human, Pair 19;
Dyskinesias;
Dystonia;
Early Diagnosis;
Female;
Head;
Humans;
Infant;
Macrocephaly;
Magnetic Resonance Imaging;
Putamen;
Seizures
- From:Journal of the Korean Pediatric Society
2002;45(10):1278-1282
- CountryRepublic of Korea
- Language:Korean
-
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.
