PDF(Pubmed)
Abstract：
We present an adult patient with schizophrenia who was later found to have hyperhomocysteinemia, a condition that increases the risk of several diseases, due to a deficiency in folic acid. Although folic acid supplementation quickly normalized the hyperhomocysteinemia and folic acid levels, it did not significantly improve the overall mental and cognitive health. Genotype analysis was performed and the patient was found to have two pathogenic variants in the MTRR gene, 66GG and 524TT, which encodes for methionine synthase reductase (MSR), an enzyme crucial for homocysteine metabolism. The results can shed light on the reasons behind the patient\'s hyperhomocysteinemia and folic acid deficiency. Hyperhomocysteinemia confers an increased risk of several diseases. Indeed, the patient has neurodevelopment and cardiovascular health problems for decades. Given the rarity of the condition and the nonspecific nature of the symptoms, the detection of hyperhomocysteinemia or MSR deficiency can often be delayed or overlooked. Considering the potential irreversible and detrimental consequences of prolonged hyperhomocysteinemia and folic acid deficiency that our patient is likely experiencing, we suggest that clinicians be vigilant for associated signs when they encounter adolescents exhibiting psychotic symptoms, especially those with additional physical symptoms and a history of resistance to treatment.
摘要：
我们介绍了一名成年精神分裂症患者，后来被发现患有高同型半胱氨酸血症，一种会增加几种疾病风险的疾病，由于缺乏叶酸。尽管补充叶酸可以迅速使高同型半胱氨酸血症和叶酸水平恢复正常，它没有显著改善整体精神和认知健康。进行基因型分析，发现患者在MTRR基因中有两种致病变异，66GG和524TT，它编码蛋氨酸合成酶还原酶（MSR），对高半胱氨酸代谢至关重要的酶。结果可以揭示患者高同型半胱氨酸血症和叶酸缺乏背后的原因。高同型半胱氨酸血症使几种疾病的风险增加。的确,患者有几十年的神经发育和心血管健康问题。鉴于病情的罕见性和症状的非特异性，高同型半胱氨酸血症或MSR缺乏的检测通常会被延迟或忽略。考虑到我们的患者可能经历的长期高同型半胱氨酸血症和叶酸缺乏的潜在不可逆转和有害后果，我们建议临床医生在遇到表现出精神病症状的青少年时要警惕相关症状，尤其是那些有其他身体症状和抵抗治疗史的人。
