以精神症状初发的甲基丙二酸尿症伴同型半胱氨酸血症1例
王赏;胡文涛;刘艳茹;田田;卢宏;
摘要(Abstract):
甲基丙二酸尿症是遗传性有机酸代谢异常中最常见的病种,主要因甲基丙二酰辅酶A变位酶(MCM)缺陷及其辅酶钴胺素(维生素B12)代谢缺陷引起。以精神症状初发的甲基丙二酸血症,鉴别诊断困难。本文旨在详细阐述该案例的诊治过程,并进行文献复习。
关键词(KeyWords): 精神症状;甲基丙二酸尿症;同型半胱氨酸血症;甲钴胺;有机酸代谢
基金项目(Foundation): 河南省高等学校重点科研项目计划(编号:18A320052)
作者(Authors): 王赏;胡文涛;刘艳茹;田田;卢宏;
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