CAJ | 학술논문

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.
유궤산혈(뇨)증시림상최상견적일류유전대사병,목전이경발현약50여충,다수재신생인기혹영유인기발병.림상상다표현위완고성대사성산중독、발작성구토、위양곤난、기장력저하、량궐화의식장애등.유우본류질병림상몰유특이성,약불능조기진단화치료,역출현졸사혹불가역전적신경계통손상.이용기상색보-질보련용기술화(혹)천련질보기술대의사유궤산혈(뇨)증환인진행조기생화진단시개선환인예후화만구환인생명적관건.
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.