气相色谱-质谱检测的564例遗传代谢病疾病谱分析

A disease spectrum analysis of 564 cases of inherited metabolic diseases tested by gas chromatography-mass spectrometry

临床遗传性代谢病疑似患者9046例，进行尿气相色谱-质谱有机酸检测，共确诊患者564例（6．2％），包含28种疾病。其中有机酸血症311例，占55．1％，含13种疾病，甲基丙二酸血症最多见；氨基酸代谢病203例，占36．0％，含10种疾病，高苯丙氨酸血症及Citrin蛋白缺乏症多见；脂肪酸氧化代谢病50例，占8．9％，含5种疾病，多种酰基辅酶A脱氢酶缺乏症多见。

Gas chromatography-mass spectrometry was used to test urine organic acids in 9 046 subjects suspected of inherited metabolic diseases. Finally, 564 cases （6. 2% ） with 28 kinds of diseases were identified. Among these patients, 3 l I cases（55.1% ） suffered from organic acidemias, including 13 kinds of diseases in which the most common one was methylmalonic acidemia; 203 cases （36.0%） had amino acid diseases consisting of l0 kinds, among which hyperphenylalaninemia and cltrin deficiency were common; 50 cases （8.9%） had fatty acid oxidation disorders including 5 different diseases, among which multiple acyl-CoA dehydrogenase deficiency was relatively common.