Han Lian-shu, Ye Jun, Qiu Wen-juan, Gao Xiao-lan, Wang Yu, Zhang Yong-jun, Gu Xue-fan
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medical, Shanghai, 200092 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):692-5.
To screen and diagnose fatty acid oxidation disorders (FAOD) in high risk children with inborn error of metabolism using tandem mass spectrometry.
The study group consisting of 2941 high risk cases of suspected inborn error of metabolism was tested. The acylcarnitines in the dry blood filter papers of patients were tested by tandem mass spectrometry. The diagnosis of FAOD was according to the levels of the acylcarnitines, the clinical symptoms, and other biochemistry study.
Fourteen patients were diagnosed as FAOD. These patients included one carnitine palmitoyltransferase deficiency I, one carnitine palmitoyltransferase deficiency II, one short-chain acyl-CoA dehydrogenase deficiency, seven medium-chain acyl-CoA dehydrogenase deficiency, two very long-chain acyl-CoA dehydrogenase deficiency, and two multiple acyl-CoA dehydrogenase deficiency.
FAOD are not rare in China. Analysis of acylcarnitines levels tested by tandem mass spectrometry is helpful to diagnose FAOD.
采用串联质谱法对高危先天性代谢缺陷患儿进行脂肪酸氧化障碍（FAOD）的筛查与诊断。
对2941例疑似先天性代谢缺陷高危病例组成的研究组进行检测。采用串联质谱法检测患者干血滤纸片中的酰基肉碱。FAOD的诊断依据酰基肉碱水平、临床症状及其他生化检查结果。
14例患者被诊断为FAOD。这些患者包括1例肉碱棕榈酰转移酶Ⅰ缺乏症、1例肉碱棕榈酰转移酶Ⅱ缺乏症、1例短链酰基辅酶A脱氢酶缺乏症、7例中链酰基辅酶A脱氢酶缺乏症、2例极长链酰基辅酶A脱氢酶缺乏症和2例多种酰基辅酶A脱氢酶缺乏症。
FAOD在中国并不罕见。通过串联质谱法分析酰基肉碱水平有助于诊断FAOD。
