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。 - Suppr

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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.

作者信息

Birnbaum T, Blom H J, Prokisch H, Hartig M, Klopstock T

出版信息

J Neurol. 2008 Nov;255(11):1845-6. doi: 10.1007/s00415-008-0043-3. Epub 2008 Oct 7.

DOI:10.1007/s00415-008-0043-3

PMID:18854913

Abstract

摘要

相似文献

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult.

J Neurol. 2008 Nov;255(11):1845-6. doi: 10.1007/s00415-008-0043-3. Epub 2008 Oct 7.

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

Indian J Pediatr. 2024 Nov;91(11):1198. doi: 10.1007/s12098-024-05254-3. Epub 2024 Sep 3.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.

Neurol Sci. 2016 Oct;37(10):1735-7. doi: 10.1007/s10072-016-2580-3. Epub 2016 Apr 27.

Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.

Rev Neurol (Paris). 2018 Mar;174(3):173-175. doi: 10.1016/j.neurol.2017.06.028. Epub 2018 Feb 1.

Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.

Epilepsia. 2011 Jul;52(7):e58-61. doi: 10.1111/j.1528-1167.2011.03064.x. Epub 2011 Apr 11.

Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

Clin Neuroradiol. 2021 Mar;31(1):277-281. doi: 10.1007/s00062-020-00947-6. Epub 2020 Sep 3.

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591.

Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.

J Inherit Metab Dis. 2021 Nov;44(6):1505-1506. doi: 10.1002/jimd.12439. Epub 2021 Sep 28.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

引用本文的文献

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Aug 28;49(8):1363-1374. doi: 10.11817/j.issn.1672-7347.2024.240214.

Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association.

J Pediatr Neurosci. 2021 Apr-Jun;16(2):153-155. doi: 10.4103/jpn.JPN_96_20. Epub 2021 Jul 12.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

The neuropsychiatry of inborn errors of metabolism.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23.

本文引用的文献

Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review.

Am J Epidemiol. 2007 Jan 1;165(1):1-13. doi: 10.1093/aje/kwj347. Epub 2006 Oct 30.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Mol Genet Metab. 2005 Jun;85(2):115-20. doi: 10.1016/j.ymgme.2005.03.001. Epub 2005 Apr 1.

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Eur J Pediatr. 2003 Jul;162(7-8):466-475. doi: 10.1007/s00431-003-1196-9. Epub 2003 May 6.

Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.

Br J Haematol. 2002 Nov;119(2):397-9. doi: 10.1046/j.1365-2141.2002.03876.x.

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

J Inherit Metab Dis. 2001 Dec;24(8):833-42. doi: 10.1023/a:1013988123902.

Remethylation defects: guidelines for clinical diagnosis and treatment.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S77-83. doi: 10.1007/pl00014307.

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.

Am J Med Genet. 1993 Mar 1;45(5):572-6. doi: 10.1002/ajmg.1320450510.

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

Neurology. 1994 Feb;44(2):344-7. doi: 10.1212/wnl.44.2.344.

Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult.

J Neurol Neurosurg Psychiatry. 1994 Jun;57(6):765-6. doi: 10.1136/jnnp.57.6.765.

Homocysteinemia and schizophrenia as a case of methylation deficiency.

J Neural Transm Gen Sect. 1994;98(2):143-52. doi: 10.1007/BF01277017.

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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.

作者信息

Birnbaum T, Blom H J, Prokisch H, Hartig M, Klopstock T

出版信息

J Neurol. 2008 Nov;255(11):1845-6. doi: 10.1007/s00415-008-0043-3. Epub 2008 Oct 7.

DOI:10.1007/s00415-008-0043-3

PMID:18854913

Abstract

摘要

相似文献

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult.

J Neurol. 2008 Nov;255(11):1845-6. doi: 10.1007/s00415-008-0043-3. Epub 2008 Oct 7.

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

Indian J Pediatr. 2024 Nov;91(11):1198. doi: 10.1007/s12098-024-05254-3. Epub 2024 Sep 3.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.

Neurol Sci. 2016 Oct;37(10):1735-7. doi: 10.1007/s10072-016-2580-3. Epub 2016 Apr 27.

Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.

Rev Neurol (Paris). 2018 Mar;174(3):173-175. doi: 10.1016/j.neurol.2017.06.028. Epub 2018 Feb 1.

Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.

Epilepsia. 2011 Jul;52(7):e58-61. doi: 10.1111/j.1528-1167.2011.03064.x. Epub 2011 Apr 11.

Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

Clin Neuroradiol. 2021 Mar;31(1):277-281. doi: 10.1007/s00062-020-00947-6. Epub 2020 Sep 3.

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591.

Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.

J Inherit Metab Dis. 2021 Nov;44(6):1505-1506. doi: 10.1002/jimd.12439. Epub 2021 Sep 28.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

引用本文的文献

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Aug 28;49(8):1363-1374. doi: 10.11817/j.issn.1672-7347.2024.240214.

Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association.

J Pediatr Neurosci. 2021 Apr-Jun;16(2):153-155. doi: 10.4103/jpn.JPN_96_20. Epub 2021 Jul 12.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

The neuropsychiatry of inborn errors of metabolism.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23.

本文引用的文献

Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review.

Am J Epidemiol. 2007 Jan 1;165(1):1-13. doi: 10.1093/aje/kwj347. Epub 2006 Oct 30.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Mol Genet Metab. 2005 Jun;85(2):115-20. doi: 10.1016/j.ymgme.2005.03.001. Epub 2005 Apr 1.

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Eur J Pediatr. 2003 Jul;162(7-8):466-475. doi: 10.1007/s00431-003-1196-9. Epub 2003 May 6.

Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.

Br J Haematol. 2002 Nov;119(2):397-9. doi: 10.1046/j.1365-2141.2002.03876.x.

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

J Inherit Metab Dis. 2001 Dec;24(8):833-42. doi: 10.1023/a:1013988123902.

Remethylation defects: guidelines for clinical diagnosis and treatment.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S77-83. doi: 10.1007/pl00014307.

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.

Am J Med Genet. 1993 Mar 1;45(5):572-6. doi: 10.1002/ajmg.1320450510.

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

Neurology. 1994 Feb;44(2):344-7. doi: 10.1212/wnl.44.2.344.

Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult.

J Neurol Neurosurg Psychiatry. 1994 Jun;57(6):765-6. doi: 10.1136/jnnp.57.6.765.

Homocysteinemia and schizophrenia as a case of methylation deficiency.

J Neural Transm Gen Sect. 1994;98(2):143-52. doi: 10.1007/BF01277017.