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A Case of Glutaric Aciduria Type I with Macrocephaly

Journal of the Korean Pediatric Society 2003;46(3):295-301.
Published online March 15, 2003.
A Case of Glutaric Aciduria Type I with Macrocephaly
Woo Jong Shin1, Yeo Ok Moon1, Hye Ran Yoon2, Eun Sil Dong3, Young Min Ahn3
1Department of Pediatrics, Kangnam General Hospital Public Co., , Korea
2Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Seoul, Korea
3Department of Pediatrics, Kangnam General Hospital Public Co., , Korea
Glutaric Aciduria Type I 1례
신우종1, 문여옥1, 윤혜란2, 동은실3, 안영민3
1지방공사 강남병원 소아과
2울의과학연구소(SCL) 유전성대사질환팀
3지방공사 강남병원 소아과
Young Min Ahn, Email: ymahn@kangnamhosp.or.kr
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Key Words: Glutaric aciduria type 1, Glutaryl-CoA dehydrogenase, Macrocephaly, Acute encephalopathy, Frontotemporal atrophy, Lysine free milk, Carnitine

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