Amino acids and their derivatives are core molecules in the processes of life, including 20 basic amino acids and numerous non-protein amino acids. They are composed of a central carbon atom, an amino group, a carboxyl group, and specific side chains, exhibiting diversity based on the differences in these side chains. Within cells, they participate in key biological processes such as protein synthesis, signal transduction, and energy production. The transport and metabolism of amino acids occur throughout various parts of the cell and are precisely regulated by genetics. Genetic variations may affect the metabolism and function of amino acids, and are associated with a variety of diseases.