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目的:报告用气相色谱-质谱联用技术尿有机酸分析(GC-MS)诊断的3-氧代硫解酶缺乏症1例。方法:留取患儿尿液使用尿素酶处理标本,,再进行气相色谱/质谱分析。结果:尿有机酸分析结果显示3-氧代硫解酶缺乏症的特征性产物:大量3-羟基丁酸、2-甲基-3-羟基丁酸,中量乳酸、甲基巴豆酰甘氨酸。结论:采用尿气相色谱/质谱技术,对有机酸尿症可以进行快速诊断,并且准确性、敏感性高。
AIM: To report a case of 3-oxothiolase deficiency diagnosed by urinary organic acid analysis (GC-MS) using gas chromatography-mass spectrometry. Methods: Tissue urine samples were collected from patients with urease and analyzed by gas chromatography / mass spectrometry. Results: The results of urine organic acid analysis showed the characteristic products of 3-oxothiolase deficiency: a large amount of 3-hydroxybutyrate, 2-methyl-3-hydroxybutyrate, medium lactate, and methyl crotonylglycine. Conclusion: Urine gas chromatography / mass spectrometry can be used to diagnose organic aciduria rapidly with high accuracy and sensitivity.