6개월된 영아에서 발견된 메틸말로닐 산혈증 1례
A Case of Methylmalonic Acidemia in a 6-month-old Infant
조성종, 노영일, 문경래,
소속 상세정보
조성종 ( Cho Sung-Jong )
조선대학교 의과대학 소아과학교실
노영일 ( Rho Young-Il )
조선대학교 의과대학 소아과학교실
문경래 ( Moon Kyung-Rye )
조선대학교 의과대학 소아과학교실
KMID : 0816120010040020249
Abstract
저자들은 출생 3개월 경 모유에서 분유로 수유를 바꾸면서 시작된 반복되는 구토, 탈수, 성장장애, 대사성 산증, 고암모니아혈증을 보이는 6개월된 남아에서 메틸말로닐 산혈증으로 진단하고 단백질 제한 식이와 비타민 B12 투여로 호전을 보이고 있는 환아 1례를
경험하였기에 문헌고찰과 함께 보고하는 바이다.
Methylmalonic acidemia is a rare congenital autosomal recessive metabolic disease. It is caused by blocking in the pathways of isoleucine, valine, threonine, methionine, cholesterol and odd-chain fatty acids to succinyl CoA, resulting in the increase of L-methylmalonyl CoA and methylmalonic acid. In most cases, there are symptoms such as recurrent vomitings, lethargy and laboratory abnormalities including metabolic acidosis and hyperammonemia from the neonatal period. We had a 6-month-old infant with methylmalonyl acidemia who presented with recurrent vomiting episodes since 3 months of age, failure to thrive and developmental delay. The laboratory findings showed hyperammoninemia and ketotic metabolic acidosis. Plasma amino acid analysis showed nonspecific finding. Urine organic acid ananysis by gas chromatography and mass spectrometry detected large amount of methylmalonic acid excreted in the urine. We restrained the supply of protein in the amount of 1∼1.5 g/㎏ of body weight a day using leucine, isoleucine and valine-r-estrained milk and administered vitamine B12, in the amount of 1mg per day. During the follow-up in the outpatient clinic, He could control his head and showed increased muscle strength.
키워드
Methylmalonic acidemia
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