A Case of Methylmalonic Acidemia
Journal of the Korean Society of Neonatology
;
: 61-66, 1998.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Spectrométrie de masse
/
Acidose
/
Vitamine B12
/
Apoenzymes
/
Chromatographie en phase gazeuse
/
Déshydratation
/
Diagnostic
/
Methylmalonyl-coA mutase
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
1998
Type:
Article
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