Table 1 summarizes the human SLC amino acid transporters that have been identified and their respective transporter genes. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The name of the amino acid transporter, gene/locus, location, phenotype MIM number, inheritance, and main clinical manifestations of these inherited metabolic diseases are summarized in Table 2. This evidence concerns the gene SLC38A7 and metabolic disease.