摘要
有机酸血（尿）症是临床最常见的一类遗传代谢病,目前已经发现约50余种,多数在新生儿期或婴幼儿期发病.临床上多表现为顽固性代谢性酸中毒、发作性呕吐、喂养困难、肌张力低下、惊厥和意识障碍等.由于本类疾病临床没有特异性,若不能早期诊断和治疗,易出现猝死或不可逆转的神经系统损伤.利用气相色谱-质谱联用技术和（或）串联质谱技术对疑似有机酸血（尿）症患儿进行早期生化诊断是改善患儿预后和挽救患儿生命的关键.
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.
出处
《中国小儿急救医学》
CAS
2014年第6期351-353,共3页
Chinese Pediatric Emergency Medicine
关键词
有机酸血症
有机酸尿症
气相色谱-质谱联用
串联质谱
Organic academia
Organic aciduria
Gas chromatography-mass spectrometry
Tandem mass spectrometry
