目的：探讨以精神症状为首发症状的成人型甲基戊二酸尿症的临床表现、诊断方法、误诊原因、治疗方法，以减少误诊率。方法回顾性分析2例以精神症状为首发症状的成人型甲基戊二酸尿症的临床资料，并结合文献分析该病病因、临床表现、影像学及治疗情况。结果以精神症状为首发的成人型甲基戊二酸尿症临床少见，易误诊为精神疾病，影像学表现为神经系统的轻度萎缩，缺乏特异性，有机酸代谢筛查明确诊断。结论对于出现精神症状的成年患者，需要排除器质性病变，特别同时伴神经系统体征的患者，应常规进行有机酸代谢筛查。治疗主要以代谢病治疗为主，小量精神药物治疗为辅。%Objective To explore the clinical manifestations ,diagnosis ,misdiagnosis ,treatment of adult‐onset methylglu‐taric aciduria with psychiatric symptoms as initial symptoms to reduce the rate of misdiagnosis.Methods Clinical data of adult‐onset methylglutaric aciduria with psychiatric symptoms as initial symptoms in two cases were analyzed retrospectively based on related literatures ,and clinical data contained the disease etiology ,clinical manifestations ,imaging and treatment.Results The adult‐onset methylglutaric aciduria with psychiatric symptoms as initial symptoms was rare in clinical cases ,which was easily misdiagnosed as mental illness. And imaging manifestation showed mild atrophy of the nervous system ,with the lack of speci‐ficity ,but the screening of organic acids metabolism could substantiate diagnosis.Conclusion For adult patients with psychiat‐ric symptoms ,which needs to exclude organic disease ,especially with neurological signs. Organic acid metabolism should be routinely screened. Treatment should be given priority to metabolic diseases treatment ,at the same time complementary with small psychotropic drugs.
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