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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。
Objective: To investigate the neuropsychiatric symptoms, treatment and prognosis in patients with methylmalonic acidemia (MMA) and homocysteinemia (Hcy). Methods: One case of late-onset MMA with Hcy was retrospectively analyzed with age, gender, neuropsychiatric symptoms and signs, laboratory examination, treatment and curative effect. Results: A total of 15 cases of MMA with Hcy were reported in this paper and in the literature, including 6 males and 9 females. The disease with neurological symptoms as the main performance, but also a variety of psychiatric symptoms, cases take years to be a clear diagnosis. Abroad are reported for the diagnosis of cell types, the lack of such tests are domestic; MMA level is a laboratory test with diagnostic value of the project, there may be no Hcy increased, more than normal levels of vitamin B12. Hydroxobalamin, cyanocobalamin, mecobalamin, and adenosylcobalamin were effective. CONCLUSIONS: Patients with mental disorders should be considered for organic and / or physical illness when symptoms and signs of the nervous system that are difficult to interpret with features and treatment of the disease, such as MMA with or without Hcy.