摘要
目的:探讨甲基丙二酸血症(MMA)伴同型半胱氨酸血症(Hcy)患者的神经精神症状、治疗及预后。方法:报告以精神症状为初发表现的晚发性MMA伴Hcy患者1例,并结合文献复习对该病例的年龄、性别、神经精神症状和体征、实验室检查、治疗及疗效等加以分析。结果:包括本文病例及文献报道共计15例MMA伴Hcy患者,其中男性6例、女性9例。该病以神经系统症状为主要表现,也可出现各种精神症状,有病例需历时数年才被明确诊断。国外均报道了用于诊断的细胞类型,国内均缺乏此类检测;MMA水平升高是具有确诊价值的实验室检查项目,可有(或)无Hcy升高,维生素B12水平多正常。羟钴胺、氰钴胺、甲钴胺和腺苷钴胺治疗均有效。结论:当精神疾病患者出现难以用疾病特点和治疗加以解释的神经系统症状和体征时,应考虑器质性疾病或躯体疾病的可能,如MMA伴(或)不伴Hcy。
Aim： To investigate neuropsychiatric symptoms,treatment and efficacy of methylmalonic acidemia and homocysteinemia.Methods： A case of late-onset methylmalonic acidemia and homocysteinemia with psychiatric symptoms was reported.According to the literature,the age,sex,neuropsychiatric symptoms and signs,laboratory tests,treatment and efficacy were analyzed.Results： There were 15 patients with methylmalonic acidemia and homocysteinemia（including 6 males and 9 females） reported.It was difficult to make diagnosis directly.Cell types were tested in abroad.The clear diagnosis is based on the elevated level of methylmalonic acid.The clinical manifestations of methylmalonic acidemia and homocysteinemia included neurological symptoms and psychiatric symptoms.Hydroxocobalamin,cyanocobalamin,methylcobalamin and adenosyl cobalamin were the main treatment drugs.Conclusion： If it is difficult to explain the neurological symptoms and signs of psychiatric patients,organic or physical disease,such as methylmalonic acidemia with or without homocysteinemia,should be taken into account.
出处
《中国临床神经科学》
2012年第1期78-84,共7页
Chinese Journal of Clinical Neurosciences
