| A Case of Glutaric Aciduria Type 1 |
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Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo |
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Departmemt of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea |
| Glutaric Aciduria Type 1 1례 |
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송준영, 김철민, 신영림, 유한욱 |
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울산대학교 의과대학 서울아산병원 소아과 |
Correspondence:
Han Wook Yoo, Email: hwyoo@www.amc.seoul.kr
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| Abstract |
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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. |
| Key Words:
Glutaric aciduria type 1, Macrocephaly, Neuroregression |
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