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Co-Occurring Methylenetetrahydrofolate Reductase (<i>MTHFR</i>) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome

Aim: Remethylation disorders such as 5,10-methylenetetrahydrofolate reductase (<i>MTHFR</i>) deficiency reduce the remethylation of homocysteine to methionine. The resulting hyperhomocysteinemia can lead to serious neurological consequences and multisystem toxicity. The role of <i>MTHFR</i> genotype...

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Principais autores: Jatinder Singh, Georgina Wilkins, Ella Goodman-Vincent, Samiya Chishti, Ruben Bonilla Guerrero, Leighton McFadden, Zvi Zahavi, Paramala Santosh
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-06-01
coleção:Brain Sciences
Assuntos:
Rett Syndrome
remethylation
MTHFR
clinical severity
pharmacogenomics
Acesso em linha:https://www.mdpi.com/2076-3425/14/7/624
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