以精神症状为首发的青春期甲基丙二酸尿症患者临床分析Clinical analysis of adolescaria methylmalonic acidemia with psychiatric symptoms as initial symptoms
李建广;王姮;
摘要(Abstract)：
目的探讨以精神症状为首发的青春期甲基丙二酸尿症的临床表现、诊断方法、治疗方法。方法回顾性分析5例以精神症状为首发症状的青春期甲基丙二酸尿症患者的临床资料,并结合文献分析该病病因、临床表现及治疗情况。结果以精神症状为首发的青春期甲基丙二酸尿症临床少见,易误诊为精神疾病,有机酸代谢筛查及基因检测可明确诊断。结论对于出现精神症状的青春期患者,需排除器质性病变,特别是同时伴神经系统体征的患者,应常规进行有机酸代谢筛查。
关键词(KeyWords)： 甲基丙二酸尿症;精神症状;青春期;有机酸代谢筛查;基因检测
基金项目(Foundation):
作者(Authors): 李建广;王姮;
参考文献(References)：
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