Mutations in the MMAA gene on human chromosome 4q31. 21 result in vitamin B12‐
responsive methylmalonic aciduria (cblA complementation group) due to deficiency in the …

Thiolatocobalamins are a class of cobalamins comprised of naturally occurring and synthetic
ligands. Glutathionylcobalamin (GSCbl) occurs naturally in mammalian cells, and also as an …

Inborn errors of intracellular cobalamin (Cbl) metabolism are rare disorders classified on the
basis of complementation analysis and other biochemical findings and fibroblasts assays …

This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis
of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations …

Background Inherited malabsorption of cobalamin (Cbl) causes hematological and
neurological abnormalities that can be fatal. Three genes have been implicated in Cbl …

Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects
cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical …

Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …

In the cblF defect of vitamin B 12 (cobalamin) metabolism, cobalamin is trapped in
lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for …

Abstract Cobalamin (Cbl, B 12) is an essential micronutrient required to fulfill the enzymatic
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …