Bracken P, Coll P
J Nerv Ment Dis. 1985 Jan;173(1):51-5. doi: 10.1097/00005053-198501000-00008.
The autosomal recessive disorder homocystinuria involves, in all its subgroups, an abnormality of methionine metabolism. The metabolism of methionine has been a central focus of interest for those who propose the transmethylation hypothesis of schizophrenia. The "methionine effect," as described in the research literature, is thus a theoretical link between these two disorders. The authors review the literature and describe those cases where both have occurred in the same patient. They indicate that whereas many patients with homocystinuria have been psychotic, few have been actually labeled schizophrenic. A patient with homocystinuria, mental retardation, and episodic psychosis is described and this case is used to point to the difficulties in making a definite psychiatric diagnosis in these patients. A relationship between the two syndromes is suggested.
常染色体隐性疾病同型胱氨酸尿症在其所有亚组中均涉及蛋氨酸代谢异常。对于那些提出精神分裂症转甲基化假说的人来说，蛋氨酸代谢一直是他们关注的核心焦点。因此，研究文献中所描述的“蛋氨酸效应”是这两种疾病之间的理论联系。作者回顾了文献并描述了同一患者同时患这两种疾病的病例。他们指出，虽然许多同型胱氨酸尿症患者存在精神症状，但实际被诊断为精神分裂症的却很少。本文描述了一名患有同型胱氨酸尿症、智力发育迟缓并伴有发作性精神病的患者，并以此病例指出对这些患者做出明确精神科诊断存在的困难。文章提出了这两种综合征之间的一种关系。
