晚发型丙酸血症一例病例分析

A case study of Iate onset prop ionic acidemia

目的探讨晚发型丙酸血症的临床特征及诊治方法。方法依据患儿临床特点和实验室结果,考虑遗传代谢疾病,通过血液串联质谱(MS/MS)分析、尿有机酸气相色谱-质谱(GC/MS)、医学外显子高通量测序明确为晚发型丙酸血症。同时复习相关文献。结果患儿10岁起病,临床表现为急性代谢紊乱(代谢性酸中毒)伴神经系统损害,检查血MS/MS分析、尿GC/MS分析考虑可疑生物素酶缺乏症或多种羧化酶缺乏症,后经医学外显子高通量测序明确诊断为丙酸血症。结论晚发型丙酸血症临床相对少见且起病隐匿,在感染等诱因下可诱发急性代谢紊乱及多系统损害,及时检测血MS/MS、尿GC/MS可早期诊断,基因检测可确诊。

0bject ive To expliore clinical features,diagnosis and treatment of late onset Propionic Academia.Methods Based on clinical characteristics and laboratory results,genetic metabolic diseases were considered.One child with late onset propionic acidemia was confirmed by blood tandem mass spectrometry(MS/MS),urine organic acid gas chromatography-mass spectrometry(GC/MS)and medical exon high-throughput sequencing,review the relevant literature at the same time.Results The child developed late at 10 years,with acute metabolic disorders and neurological damage.The first examination of blood tandem mass spectrometry(MS/MS)analysis,urine organic acid gas chromatography-mass spectrometry(GC/MS)analysis all considered suspicious biotininase deficiency or multiple carboxylase deficienc.Finally through exome sequencing clear and definite diagnosed propionic acidemi.Conclus ion Late--onset propionic acidemia is relatively rare and insidious,but it can induce acute metabolic disorder or multi-system damage due to various stress responses.Clinical manifestations were confirmed by blood tandem mass spectrometry(MS/MS),urine organic acid gas chromatography-mass spectrometry(GC/MS)and genetic examination.