MTHFR과 연관된 고호모시스테인혈증에 의해 유발된 신경계증상
Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
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Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.
Abstract
Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.
참고문헌 (10)
- 김지현, "Causes of hyperhomocysteinemia and its pathological significance", Archives of Pharmacal Research, 41(4), pp.372~383 (2018), 대한약학회
- Liew SC, "Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism : epidemiology, metabolism and the associated diseases", Eur J Med Genet, 58, pp.1~10 (2015)
- Wan L, "Methylenetetrahydrofolate reductase and psychiatric diseases", Transl Psychiatry, 8, pp.242~ (2018)
- Jin H, "An evidence-based approach to globally assess the covariatedependent effect of the MTHFR single nucleotide polymorphism rs1801133 on blood homocysteine : a systematic review and metaanalysis", Am J Clin Nutr, 107, pp.817~825 (2018)
- Rommer PS, "Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency", J Neurol Sci, 383, pp.123~127 (2017)
- Moll S, "Homocysteine and MTHFR mutations", Circulation, 132, pp.e6~e9 (2015)
- Al Mutairi F, "Hyperhomocysteinemia : clinical insights", J Cent Nerv Syst Dis, 12, pp.1179573520962230~ (2020)
- Zhang X, "Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism and subacute combined degeneration : revealing a genetic predisposition", Front Neurol, 9, pp.1162~ (2019)
- Gales A, "Adolescence", adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes, 2018, pp.13, 29~
- Maron BA, "The treatment of hyperhomocysteinemia", Annu Rev Med, 60, pp.39~54 (2009)