The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular
homeostasis due to its key functions in the one-carbon cycle, which include methionine and …

Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

Homocysteine (Hcy) is a sulfhydryl-containing amino acid, and intermediate metabolite
formed in metabolising methionine (Met) to cysteine (Cys); defective Met metabolism can …

Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for the critical process of one-
carbon metabolism involving folate and homocysteine metabolisms. It is known that some …

Chronic atrophic gastritis (CAG) is an underdiagnosed condition characterised by
translational features going beyond the strict field of gastroenterology as it may manifest …

Homocysteine, an amino acid containing a sulfhydryl group, is an intermediate product
during metabolism of the amino acids methionine and cysteine. Hyperhomocysteinemia is …

Most rare clinical missense variants cannot currently be classified as pathogenic or benign.
Deficiency in human 5, 10-methylenetetrahydrofolate reductase (MTHFR), the most common …

Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group
of neurodegenerative disorders of white matter with a wide age of onset and phenotypic …

The folate and methionine cycles are crucial for biosynthesis of lipids, nucleotides and
proteins, and production of the methyl donor S-adenosylmethionine (SAM). 5, 10 …

Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are
caused by mutations in the specific genes that lead to impaired proteins or enzymes …