In humans, the B 12 coenzymes, adenosylcobalamin and methylcobalamin, are required
cofactors for propionate metabolism and methionine biosynthesis, respectively. Humans are …

Leigh syndrome (LS, McKusick 256000) is a heterogeneous group of metabolic disorders of
infancy or childhood which share common presentation of neuropathological changes by …

The mystery of how the cyanide group in vitamin B12 or cyanocobalamin, discovered 60
years ago, is removed, has been solved by the demonstration that the trafficking chaperone …

Fifty years have passed since the description of juvenile selective malabsorption of
cobalamin (Cbl). Quality of life improvements have dramatically reduced the incidence of …

Cobalamin metabolism has been investigated in a new case of transcobalamin II (TC II)
deficiency. Using the chromatobioautographic technique, an abnormal distribution of …

Transcobalamin (TC), a vitamin B12 (cobalamin, Cbl) binding protein in plasma, promotes
the cellular uptake of the vitamin by receptor‐mediated endocytosis. Inherited TC deficiency …

To date, only very few genetic disorders due to defects in lysosomal membrane transport are
known. This paper reviews the identification of the underlying molecular defect causing an …

Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism
causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and …

Cobalamin is an essential cofactor for two mammalian enzymes: methionine synthase and
methylmalonyl‐CoA mutase. Patients with the cobalamin C (CblC) defect have combined …

Abstract Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin
metabolism which causes a block in the pathway responsible for the synthesis of its two …