B12 deficiency is the leading cause of megaloblastic anemia, and although more common in
the elderly, can occur at any age. Clinical disease caused by B12 deficiency usually …

Vitamin B12 (cobalamin, Cbl, B12) is an indispensable water-soluble micronutrient that
serves as a coenzyme for cytosolic methionine synthase (MS) and mitochondrial …

BACKGROUND: Intellectual disability ('developmental delay'at age< 5years) affects 2.5% of
population worldwide. Recommendations to investigate genetic causes of intellectual …

Mammalian cells require activated folates to generate nucleotides for growth and division.
The most abundant circulating folate species is 5-methyl tetrahydrofolate (5-methyl-THF) …

Conspectus Metals are partners for an estimated one-third of the proteome and vary in
complexity from mononuclear centers to organometallic cofactors. Vitamin B12 or cobalamin …

Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a
transport protein involved in one of the several cellular metabolic pathways devoted to the …

Control over transition metal redox state is essential for metalloprotein function and can be
achieved via coordination chemistry and/or sequestration from bulk solvent. Human …

Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …

Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized …

To date, epimutations reported in man have been somatic and erased in germlines. Here,
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …