Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
Journal of the Korean Neurological Association
; : 68-72, 2023.
Article
em Ko
| WPRIM
| ID: wpr-967808
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2023
Tipo de documento:
Article