| A Case of Methylmalonic Acidemia. |
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Seong Hoi Jeon, Hae Won Cheon, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Shi Hun Hahn |
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| Abstract |
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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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