Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
- Author:
Minsung KANG
1
;
June Woo AHN
;
Sohyeon KIM
;
Hung Youl SEOK
;
Jin-Sung PARK
Author Information
- Publication Type:Case Report
- From:Journal of the Korean Neurological Association 2023;41(1):68-72
- CountryRepublic of Korea
- Language:Korean
- 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.
