Methylenetetrahydrofolate Reductase (MTHFR) C677T 유전자 다형성 연관 아급성연합변성
Subacute Combined Degeneration Associated with Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism
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초록
Subacute combined degeneration (SCD) is a metabolic disease caused by deficiency of vitamin B12. Rarely, it could be associated with genetic problem. An old male presented with progressive both hands weakness. Laboratory study showed deficiency of vitamin B12, but the cause was not clear. We performed a genetic study and methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism with 30% of normal enzyme activity was confirmed. This case suggests SCD may occur in association with a genetic problem with MTHFR C677T polymorphism.
Abstract
Subacute combined degeneration (SCD) is a metabolic disease caused by deficiency of vitamin B12. Rarely, it could be associated with genetic problem. An old male presented with progressive both hands weakness. Laboratory study showed deficiency of vitamin B12, but the cause was not clear. We performed a genetic study and methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism with 30% of normal enzyme activity was confirmed. This case suggests SCD may occur in association with a genetic problem with MTHFR C677T polymorphism.
참고문헌 (6)
- Schwendimann RN, "Metabolic and toxic myelopathies", Continuum (Minneap Minn), 24, pp.427~440 (2018)
- Zhang X, "Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and subacute combined degeneration: revealing a genetic predisposition", Front. Neurol, 9, pp.1162~ (2019)
- Al-Batayneh KM, "Association between MTHFR 677C>T polymorphism and vitamin b12 deficiency: a case-control study", J Med Biochem, 37, pp.141~147 (2018)
- Liew SC, "Methylenetetrahydrofolate reductase (MTHFR)C677T polymorphism: epidemiology, metabolism and the associated diseases", Eur J Med Genet, 58, pp.1~10 (2015)
- 최병옥, "MTHFR C677T 유전자 다형성과 허혈성 뇌졸중의 상관 관계", 대한신경과학회지, 23(5), pp.607~613 (2005), 대한신경과학회
- Schiff M, "Isolated remethylation disorders: do our treatments benefit patients?", J Inherit Metab Dis, 34, pp.137~145 (2011)