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Major Mendelian diseases and location of related genes in the catabolism of BCAA. Mendelian diseases can be classified as function of genes involved in four steps: 1) gene involved in reversible transamination; 2) irreversible oxidation by the BCKDH complex including the BCKD kinase and PPM1K; 3) a series of rare diseases of intermediates in leucine, isoleucine and valine pathways; 4) genes involved in the distal phase of BCAA metabolism like the MUT gene.
