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Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.

作者信息

Michot J M, Sedel F, Giraudier S, Smiejan J M, Papo T

出版信息

J Neurol Neurosurg Psychiatry. 2008 Aug;79(8):963-4. doi: 10.1136/jnnp.2008.143677. Epub 2008 Mar 20.

DOI:10.1136/jnnp.2008.143677
PMID:18356252
Abstract
摘要

相似文献

1
Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.
J Neurol Neurosurg Psychiatry. 2008 Aug;79(8):963-4. doi: 10.1136/jnnp.2008.143677. Epub 2008 Mar 20.
2
[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].[由亚甲基四氢叶酸还原酶缺乏引起的以后部为主的白质脑病并成功用叶酸治疗]
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Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.以可逆性痉挛性截瘫为特征的成人型严重亚甲基四氢叶酸还原酶缺乏症伴新突变。
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Early treatment using betaine and methionine for a neonate with MTHFR deficiency.对一名患有亚甲基四氢叶酸还原酶（MTHFR）缺乏症的新生儿早期使用甜菜碱和蛋氨酸进行治疗。
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Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.一名进行性肌阵挛癫痫青少年患者中严重的5,10-亚甲基四氢叶酸还原酶缺乏症及两种亚甲基四氢叶酸还原酶变体
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Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult.亚甲基四氢叶酸还原酶缺乏症（II型同型胱氨酸尿症）是一名既往健康的成年人快速进展性四肢痉挛和精神病的罕见病因。
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Methylene Tetrahydrofolate Reductase Deficiency.亚甲基四氢叶酸还原酶缺乏症。
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[Methylenetetrahydrofolate Reductase deficiency and anesthesia: importance of a detailed preoperative evaluation].[亚甲基四氢叶酸还原酶缺乏与麻醉：详细术前评估的重要性]
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引用本文的文献

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MTHFR Deficiency: A Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraparesis.亚甲基四氢叶酸还原酶缺乏症：成人起病型遗传性痉挛性截瘫的一个潜在可治疗病因。
Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):300-301. doi: 10.4103/aian.aian_340_21. Epub 2022 Jan 12.
2
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.亚甲基四氢叶酸还原酶缺乏患者因感染引发的快速进展性精神病症状：一例报告
BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.
3
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
钴胺素相关再甲基化障碍（cblC、cblD、cblE、cblF、cblG、cblJ和亚甲基四氢叶酸还原酶缺乏症）的诊断与管理指南
J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.
4
Can psychiatric childhood disorders be due to inborn errors of metabolism?儿童期精神障碍会是由先天性代谢缺陷引起的吗？
Eur Child Adolesc Psychiatry. 2017 Feb;26(2):143-154. doi: 10.1007/s00787-016-0908-4. Epub 2016 Sep 30.
5
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.33例严重5,10-亚甲基四氢叶酸还原酶（MTHFR）缺乏患者的临床症状、突变情况及体外残余活性
J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.
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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.通过新生儿筛查发现的4例同型半胱氨酸再甲基化障碍患者的结局。
Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.
7
The neuropsychiatry of inborn errors of metabolism.先天性代谢错误的神经精神病学。
J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23.