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Some disorders of intracellular cobalamin metabolism (cblC, cblD-MMA/Hcy, cblF, and cblJ) do not only compromise the synthesis of methylcobalamin, but also the synthesis of adenosylcobalamin, cofactor of the enzyme methylmalonyl-CoA mutase, leading to elevated concentrations of both tHcy and methylmalonic acid (MMA)

they only tested mitofusin-2 levels, an indicator for mitochondrial activity, which was unaltered 259