All issues > Volume 46(3); 2003

Case Report

J Korean Pediatr Soc. 2003;46(3):295-301. Published online March 15, 2003.

A Case of Glutaric Aciduria Type I with Macrocephaly

Woo Jong WJ Shin¹, Yeo Ok YO Moon¹, Hye Ran HR Yoon², Eun Sil ES Dong³, Young Min YM 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

Correspondence Young Min YM Ahn ,Email: ymahn@kangnamhosp.or.kr

Abstract

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.

Keywords :Glutaric aciduria type 1, Glutaryl-CoA dehydrogenase, Macrocephaly, Acute encephalopathy, Frontotemporal atrophy, Lysine free milk, Carnitine