| A Case of Propionic Acidemia |
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Woo Seop Yeoum1, Kwang Wook Lee1, Byeong Ho Chae1, Baek Keun Lim1, Hong Jin Lee2 |
1Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea
2Department of Pediatrics, College of Medicine, Hanlim University, Chunchon, Korea |
| 프로피온산혈증 1례 |
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염우섭1, 이광욱1, 차병호1, 임백근1, 이홍진2 |
1연세대학교 원주의과대학 소아과학교실
2한림대학교 의과대학 소아과학교실 |
Correspondence:
Woo Seop Yeoum, Email: 1
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| Abstract |
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Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included. |
| Key Words:
Propionic acidemia |
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