Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this
vitamin, which is essential for hematological and neurological function, is transported and …

Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …

Vitamin B 12 (Cbl) is needed for just two metabolic reactions in man, the methylation of
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …

Vitamin B12 or cobalamin (Cbl) metabolism can be affected by genetic defects leading to
defective activity of either methylmalonyl-CoA mutase or methionine synthase or both …

Disorders of cobalamin deficiency are a heterogeneous group of disorders with at least 19
autosomal recessive-associated genes. Familial samples of an infant who died due to …

Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial
enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B 12 …

Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism
resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia …

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …

Next generation sequencing (NGS) based gene panel testing is increasingly available as a
molecular diagnostic approach for inborn errors of metabolism. Over the past 40 years …

Background CblC deficiency produces a combination of methylmalonic aciduria (MMA) and
homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients …