A Case of Methylmalonic Acidemia.
- Author:
Seong Hoi JEON
;
Hae Won CHEON
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
;
Shi Hun HAHN
- Publication Type:Case Report
- Keywords:
Methylmalonic acidemia;
Inborn error of metabolism
- MeSH:
Acidosis;
Apoenzymes;
Chromatography, Gas;
Dehydration;
Diagnosis;
Female;
Humans;
Mass Spectrometry;
Methylmalonyl-CoA Mutase;
Vitamin B 12
- From:Journal of the Korean Society of Neonatology
1998;5(1):61-66
- CountryRepublic of Korea
- Language:Korean
-
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.