气相-色谱质谱法尿有机酸检测诊断遗传代谢病患儿的疾病谱

Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids

目的了解气相色谱-质谱技术检测尿有机酸水平诊断的遗传代谢病患儿的氨基酸、有机酸、脂肪酸氧化代谢病疾病谱。方法回顾性分析2005年1月至2021年12月上海交通大学医学院附属新华医院诊断为遗传代谢病的2461例患儿的疾病谱,患儿均通过气相色谱-质谱尿有机酸谱检测,并结合血串联质谱氨基酸及酰基肉碱检测结果及基因变异检测结果诊断。结果2461例患儿中男1446例,女1051例,共有32种遗传代谢病,其中氨基酸代谢病10种662例(26.9%),常见的前6种疾病为高苯丙氨酸血症、希特林蛋白缺乏症、鸟氨酸氨甲酰转移酶缺乏症、枫糖尿病、尿黑酸尿症及酪氨酸血症-Ⅰ型;有机酸血症17种1683例(68.4%),常见的前6种疾病为甲基丙二酸血症、丙酸血症、戊二酸血症-Ⅰ型、异戊酸血症、3-甲基巴豆酰辅酶A羧化酶缺乏症及多种羧化酶缺乏症;脂肪酸β氧化代谢病5种116例(4.7%),常见的前2种疾病为多种酰基辅酶A脱氢酶缺乏症和短链酰基辅酶A脱氢酶缺乏症。结论气相色谱-质谱技术尿有机酸谱检测诊断的疾病中有机酸血症最常见,然后为氨基酸代谢病及脂肪酸氧化代谢病。

Objective To investigate the spectrum of amino acid,organic acid,and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry.Methods From January 2005 to December 2021,clinical data of 2461 children diagnosed with inherited metabolic diseases(IMD)by gas chromatography-mass spectrometry,in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed.Results Among 2461 children,1446 were male and 1051 were female.A total of 32 types of IMD were detected among 2461 patients,which included 10 amino acid disorders in 662 cases(26.9%),6 common diseases were hyperphenylalaninemia,citrin deficiency,ornithine carbamoyltransferase deficiency,maple syrup urine disease,alkaptonuria,and tyrosinemia-I,17 types of organic acidemias in 1683 cases(68.4%),6 common diseases were methylmalonic acidemia,propionic acidemia,valeric acidemia-typeⅠ,isovaleric acidemia,3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acidβoxidative defects in 116 cases(4.7%),2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency.Conclusion Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry,the most common are organic acidemias,followed by amino acid disorders and fatty acid oxidation defects.