【摘要】 目的探讨遗传代谢病疾病谱的湖南地理区域性价值。方法以本院就诊的1周～5岁脑发育障碍性疾病患儿为研究对象,经血氨等常规实验室生化检测,临床初步识别或怀疑的1386例代谢性脑发育障碍性病患儿为重点;进一步以GC-MS(气相色谱质谱仪)晨尿有机酸分析、MS-MS(串联质谱仪)血液氨基酸谱和酯酰肉碱谱分析等进行病因学诊断。结果1386例脑发育障碍性病患儿中共拟诊或筛查出遗传代谢病83例(6.13%):其中原发性或继发性高乳酸或丙酮酸血症32例;尿素循环障碍11例;氨基酸和有机酸代谢病11例;糖类代谢病1例;D-甘油酸尿症等其他28例。结论湖南地理区域性遗传代谢病的病种分布以三羧酸循环障碍、线粒体能量代谢病及尿素循环障碍等为主,为政府制定"新生儿筛查"新政策提供科学依据,具有重要的参考价值。更多还原

【Abstract】 Objective To explore the value of disease spectrum of inherited metabolic disorders in Hunan region.Methods A total of 1,386 children with cerebral development disorders aged between 1-week and 5-year-old were included in this study,and the blood levels of ammonia and lactate were detected by conventional biochemical laboratory testing,morning urine organic acid was analyzed by gas chromatography mass spectrometer(GC-MS),and amino acids and blood-carnitine-spectrum were determined and analyzed by tandem mass spectrometry(MS-MS).Results Among 1,386 children with cerebral development disorders,there were 83 cases with suspected disease of inherited metabolic disorders(6.13%),and 32 cases with primary or secondary hyperlactic acidemia or hyperpyruvatic academia,11 cases with urea cycle disorders,11 cases with organic acids and amino acid metabolism disease,1 case with carbohydrate metabolism,28 cases with D-glycerol aciduria and so on.Conclusions The main diseases of inherited metabolic disorders in Hunan region are TCA cycle disorders,mitochondrial energy metabolism and urea cycle disorders;the result provides a scientific basis for making new policy of neonatal screening,and it is of great value to clinical diagnosis.更多还原