先天性遗传代谢病的早期诊断

目的提高儿科医生对新生儿期遗传代谢病的认识，做到早期诊断、早期治疗。方法自2003年9月至2004年9月，根据临床表现确定18名遗传代谢病高危患儿，用“滤纸片代”将采集的尿标本外寄进行气相色谱．质谱(GC／MS)分析，筛查遗传代谢病。结果18例高危儿中确诊为遗传代谢病5例，分别为戊二酸尿症Ⅱ型1例(46h，男)，鸟氨酸氨甲酰转移酶缺陷1例(66h，男)，枫糖尿病1例(8d，男)，甲基丙二酸血症1例(13d，男)，丙酸血症1例(21d，女)，并对其临床特点进行归纳总结。结论掌握新生儿遗传代谢病临床特点，对高危儿早期进行尿GC／MS分析，可以早期诊断遗传代谢病，有利于优生优育。

Early diagnosis of inborn errors of metabolism in neonatal Period

Objective To improve pediatricians' knowledge of inborn errors of metabolism in neonatal period. Make the diagnosis and treatment as early as possible. Methods Eighteen newborn babies admitted to our hospital were suspected of inborn errors of metabolism according to their clinical features. Their urine samples were collected with filter paper set, then mailed to the lab for GC/MS analysis. Results five out of 18 were confirmed to be inborn errors of metabolism. They were omithine carbamoyltransferase deficiency(OCTD) (66 h, male), glutaricacidemia II (46 h, male), maple syrup urine disease(8 d, male), methylmalonic acidemia(13 d, male), propionic acidemia(21d, female). Their clinical features were also summarized. Conclusion Alert to clinical features and to do screening with GC/MS analysis will benefit for early diagnosis and treatment of inborn errors of metabolism.