Methylmalonyl aciduria

Question

20 Dec 2024

Answer :

Word Count : 312

Methylmalonyl aciduria is a rare metabolic disorder characterized by the accumulation of methylmalonic acid (MMA) in the blood and urine. This condition results from a defect in the enzyme methylmalonyl-CoA mutase or deficiencies in the cofactor adenosylcobalamin (a form of vitamin B12) that is required for the proper function of this enzyme.

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