迟发型甲基丙二酸血症6例报道并文献复习
Stroke and Nervous Diseases（2018）
Abstract
甲基丙二酸血症(methylmalonic acidemia,MMA)或称甲基丙二酸尿症(methylmalonic aciduria,MMA)是先天性有机酸代谢异常中最常见的疾病,为常染色体隐性遗传.临床上有单纯性甲基丙二酸血症(MMA)和甲基丙二酸血症合并同型半胱氨酸尿症(MMA-HC)两种类型.由于甲基丙二酰辅酶A变位酶或其辅酶钴胺素(维生素B12)代谢缺陷导致甲基丙二酸异常蓄积,造成一系列神经系统损害和酸中毒.本研究回顾分析6例迟发型甲基丙二酸血症患者,并复习相关文献.
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