亚甲基四氢叶酸还原酶缺陷导致学童精神分裂症

发布时间：2019-07-17 07:03

【摘要】：亚甲基四氢叶酸还原酶(MTHFR)缺陷是一种少见的常染色体隐性遗传性疾病,是高同型半胱氨酸血症的常见类型之一。该文通过对1例MTHFR缺陷导致的精神障碍的临床经过、生化特点、MTHFR基因突变进行回顾性研究,探讨该病的临床特点与诊疗方法。患儿11岁起出现精神异常,恐惧、幻听、学习困难、入睡困难、脾气暴躁、发呆、傻笑,符合精神分裂症诊断。多种精神科药物治疗无效,休学。13岁时来院就诊,血、尿总同型半胱氨酸明显升高。血浆和脑脊液叶酸均显著降低。血液蛋氨酸水平正常。患儿MTHFR基因存在665CT纯合突变。经亚叶酸钙、维生素B12、维生素B6、甜菜碱补充治疗1周后,患儿血清及尿液总同型半胱氨酸降至正常,病情逐步改善,3个月后复学。晚发型MTHFR缺陷合并继发性脑叶酸缺乏症的患儿可表现为精神分裂症;血液及尿液总同型半胱氨酸测定、血液氨基酸测定、血清及脑脊液叶酸测定及基因分析对患者的病因诊断非常重要;补充叶酸、维生素B6、维生素B12、甜菜碱治疗有效。
[Abstract]:Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive genetic disease and is one of the common types of hyperhomocysteinemia. In this paper, the clinical course, biochemical characteristics and MTHFR gene mutation of a case of mental disorder caused by MTHFR deficiency were studied retrospectively. the clinical characteristics and diagnosis and treatment of the disease were discussed. Since the age of 11, the child has abnormal mind, fear, auditory illusion, learning difficulties, difficulty falling asleep, grumpy temper, daze, giggling, in line with the diagnosis of schizophrenia. A variety of psychotropic drugs were ineffective and suspended. When they came to the hospital at the age of 13, the total homocysteine in blood and urine was significantly higher. Folic acid in plasma and cerebrospinal fluid decreased significantly. Blood methionine levels are normal. There was 665CT homozygous mutation in MTHFR gene in children. After one week of supplementary treatment with calcium folinate, vitamin B12, vitamin B6 and betaine, the total homocysteine in serum and urine of the children decreased to normal, the condition improved gradually, and returned to school after 3 months. Schizophrenia can be seen in children with late onset MTHFR deficiency complicated with secondary cerebral folic acid deficiency. Determination of total homocysteine in blood and urine, determination of blood amino acids, determination of folic acid in serum and cerebrospinal fluid and gene analysis are very important for etiological diagnosis of patients. Supplementation of folic acid, vitamin B6, vitamin B12 and betaine is effective in the treatment of schizophrenia.
【作者单位】：北京大学第一医院儿科;北京大学第六医院儿科;
【基金】：“十二五”国家科技支撑计划课题(编号2012BAI09B04)
【分类号】：R749.94

【参考文献】