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

Cerebral folate deficiency is typically defined as a deficiency of the major folate species 5‐
methyltetrahydrofolate in the cerebrospinal fluid (CSF) in the presence of normal peripheral …

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

ABSTRACT Severe 5, 10‐methylenetetrahydrofolate reductase (MTHFR) deficiency is
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …

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 …

Nonalcoholic fatty liver disease (NAFLD) is a spectrum of chronic liver conditions that are
characterized by steatosis, inflammation, fibrosis, and liver injury. The global prevalence of …

methylenetetrahydrofolate reductase (MTHFR) commits folate-derived one-carbon units to
generate the methyl-donor s-adenosyl-l-methionine (SAM). Eukaryotic MTHFR appends to …

Background Rare genetic variants play a critical role in unprovoked pulmonary embolism
(PE). However, the known risk genes only account a small proportion of patients with PE …

Background Inborn errors of metabolism (IEMs) underlie a substantial proportion of
paediatric disease burden but their genetic diagnosis can be challenging using the …

Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …