J Korean Soc Neonatol.
1998 Jun;5(1):61-66.
A Case of Methylmalonic Acidemia
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.
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