Tag: Methylmalonic aciduria

Elevated levels of methylmalonic acid (MMA) are a specific biomarker for functional vitamin B12 deficiency, often appearing before low B12 serum levels. This makes vitamin B12 the primary vitamin deficiency that causes methylmalonic aciduria, though the condition can also arise from inherited metabolic disorders.

Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism, leading to a build-up of harmful metabolites. The cornerstone of management for this serious genetic condition involves a carefully coordinated, multi-faceted approach, so how do you treat cobalamin C deficiency to achieve the best possible outcomes?