A Case of Methylmalonic Acidemia.

Jeon,  Seong Hoi; Cheon,  Hae Won; Yoo,  Kee Hwan; Hong,  Young Sook; Lee,  Joo Won; Hahn,  Shi Hun

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Case Report

Journal of the Korean Society of Neonatology 1998;5(1):61-66.
Published online January 1, 2001.

A Case of Methylmalonic Acidemia.

Seong Hoi Jeon, Hae Won Cheon, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Shi Hun Hahn

Abstract

We experienced a case of vitamin B12 unresponsive methlymalonic acidemia in a 4 day old female, who had poor feeding, dehydration with metabolic acidosis, and hyperammonernia and died at 7 days of age. Diagnosis was made by gas chromatography and mass spectrometry, and this case is probably a methylmalonyl CoA mutase apoenzyme deficiency type.

Key Words: Methylmalonic acidemia; Inborn error of metabolism

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