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The subunits are encoded by the PDHB gene

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MD is an autosomal recessive disorder resulting in myophosphorylase deficiency leading to the inability to use glycogen storages (McArdle, 1951

B12 is a water-soluble vitamin, meaning excess amounts are typically excreted in urine rather than accumulating to toxic levels, which distinguishes it from fat-soluble vitamins like A and D