What is the recommended treatment for methylmalonic acidemia caused by methylcarboxylase deficiency?

Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency is a type of organic acidemia where there is a disruption in the metabolism of certain amino acids and lipids. The enzyme involved, methylmalonyl-CoA mutase, requires vitamin B12 (cobalamin) as a cofactor for its function.

The administration of vitamin B12 can help in managing this condition, as it may restore activity to the deficient enzyme in some patients, leading to decreased levels of methylmalonic acid in the body. This is particularly relevant since there are different types of vitamin B12 deficiency, and addressing this specific deficiency directly impacts the biochemical pathway involved.

Other options, while important in different contexts or conditions, do not directly relate to the treatment of methylmalonic acidemia. Vitamin B6 and biotin are important in various metabolic processes, but they do not play a direct role in the pathophysiology of methylmalonyl-CoA mutase deficiency. Similarly, folic acid, while vital for DNA synthesis and repair, does not address the specific enzymatic deficiency present in this condition. Thus, vitamin B12 supplementation stands out as the appropriate and targeted treatment for managing methylmalonic acidemia resulting from