Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 2 Issue 1
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- Pages.85-88
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- 2002
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- 2287-4712(pISSN)
1 Case of Liver Transplantation in Methylmalonic Acidemia
메칠말로닌산혈증 환아에서 시행한 간이식 1례
- Jeon, Pil Keun (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
- Lee, Dong Hwan (Department of Pediatrics, College of Medicine, Soonchunhyang University)
- Published : 2002.07.05
Abstract
Methylmalonic acidemia is an inborn error of branched chain amino acid metabolism, clinically characterized by lethargy, vomiting, and hypertonia with abnormal movements, and biochemically characterized by ketoacidosis, hyperammonemia, and sometimes hyperglycinemia. Conventional treatment of methylmalonic acidemia incluides dietary protein restriction, bicarbonate, carnitine, and metronidazole. However, most patient have recurrent episodes of acidosis, and a significant number have neurologic deficits and renal impairment. We report the successful treatment of a patient with methylmalonic acidemia by liver transplantation.
저자들은 생후 47일경부터 구토와 산증이 지속되어 시행한 소변 유기산 분석에서 진단된 메칠말로닌산혈증 환아에서 생체 부분 간이식을 시행한 1례에 대해서 문헌 고찰과 함께 보고하는 바이다.