Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives (opens in new tab)

Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved. While classically associated with megaloblastic anemia, its neurological manifestations can be diverse, severe, and often precede hematological changes. This review provides a detailed analysis of the role of cobalamin in different biochemic...