Organic acidemia/aciduria and therapy
10.3760/cma.j.issn.1673-4912.2014.06.004
- VernacularTitle:有机酸血(尿)症及其临床处理
- Author:
Xin XIAO
;
Hu HAO
- Publication Type:Journal Article
- Keywords:
Organic academia;
Organic aciduria;
Gas chromatography-mass spectrometry;
Tandem mass spectrometry
- From:
Chinese Pediatric Emergency Medicine
2014;21(6):351-353
- CountryChina
- Language:Chinese
-
Abstract:
The organic acidemia/aciduria is one of the most common inherited metabolic disorders in clinic,more than 50 species have been found until now.The illness is believed to be caused by gene mutation,leading to the reduction or loss of enzyme activity and the accumulation of carboxylic acid and its metabolites.The manifestations of increased blood organic acids include refractory metabolic acidosis,paroxysmal vomiting,feeding difficulties,hypotonia,convulsions and disturbance of consciousness.Most of the organic acidemia begins in neonatal period or infancy,accompanied by progressive neurological damages at most of the time.There are little specific clinical features can be found in this kind of diseases,therefore,early diagnosis and treatment must be initiated in order to decrease risk of neurological induries and damages or acute deaths.So application of the gas chromatography-mass spectrometry and tandem mass spectrometry is important to the early diagnosis,helpful for improving the outcomes and reducing child mortality.
