 In addition to this, mutations in genes related to lysine metabolism have been implicated in several disease states, including pyridoxine-dependent epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene).Hyperlysinuria is marked by high amounts of lysine in the urine.It is often due to a metabolic disease in which a protein involved in the breakdown of lysine is non functional due to a genetic mutation.