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.
Acidosis ; Apoenzymes ; Chromatography, Gas ; Dehydration ; Diagnosis ; Female ; Humans ; Mass Spectrometry ; Methylmalonyl-CoA Mutase ; Vitamin B 12