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A Case of Methylmalonic Acidemia.

Journal of the Korean Pediatric Society 1987;30(7):791-796.
Published online July 31, 1987.
A Case of Methylmalonic Acidemia.
Hyung Ro Moon, Hae Rim Jung, Mi Ryung Um
Department of Pediatrics, College of Medicine, Seoul National University, Korea
메틸 말로닐산혈증 1 례
문 형 로, 정 혜 림, 엄 미 령
서울대학교 의과대학 소아과학교실
Abstract
Methylmalonic acidemia is an inborn error of metabolsim, transmitted as an autosomal recessive traits. Symptoms begin early in life and they are pernicious vomiting, lethargy, hepatomegaly, and failure to thrive. Laboratory finidngs are ketosis, intermittent hyperglycinemia, and methymalonic aciduria without vitamin B12 deficiency. Six distinct subtypes of this disorders have been characterized. Some of them respond well to exogenous vitamin B12 therapy. We have experienced a case of vitamin B12 responsive methylmalonic acidemia in a 6 month old girl who complained of recurrent vomiting and dehydration. Diagnosis was made by her clinical and laboratory features. The case was presented with brief review of literatures.
Key Words: Methylmalonic Acidemia.


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