BACKGROUND: Vitamin B12 (cobalamin) is a cobalt-containing compound synthesized by
bacteria and an essential nutrient in mammals, which take it up from diet. The absorption …

Methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl) are coenzymes for methionine
synthase and methylmalonyl‐CoA mutase, respectively. Hydroxylcobalamin (HOCbl) and …

Genome-wide association studies have mainly relied on common HapMap sequence
variations. Recently, sequencing approaches have allowed analysis of low frequency and …

Human ABC transporter ABCD1 transports very long-chain fatty acids from cytosol to
peroxisome for β-oxidation, dysfunction of which usually causes the X-linked …

Vitamin B12, also known as cobalamin, is a water-soluble vitamin that is important in the
hematological and nervous systems, and it has a complex relationship with the skin. Altered …

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally
not detected early in life on a clinical basis, and if sensitive and specific biochemical markers …

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 …

Nutritional and genetic deficiencies of folate and vitamin B 12 lead to elevation of cellular
homocysteine (Hcy), which translates in increased plasma Hcy. The sources and role of …

X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder, is caused by
mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) …

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