A Case of Methylmalonic Acidemia
Journal of the Korean Society of Neonatology
;
: 61-66, 1998.
Article
in Korean
| WPRIM
| ID: wpr-183912
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Mass Spectrometry
/
Acidosis
/
Vitamin B 12
/
Apoenzymes
/
Chromatography, Gas
/
Dehydration
/
Diagnosis
/
Methylmalonyl-CoA Mutase
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
1998
Type:
Article
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