Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
Journal of the Korean Neurological Association
;
: 68-72, 2023.
Article
in Korean
| WPRIM
| ID: wpr-967808
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.
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Index:
WPRIM (Western Pacific)
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2023
Type:
Article
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