Other diseases specifically caused by defects of the lipoic acid biosynthesis include mutations in lipoic acid synthase (LIAS) (OMIM: 614462), lipoyltransferase 1 (LIPT1) (OMIM: 616299) and lipoyloctanoyl transferase 2 (LIPT2) (OMIM: 617668) and are characterized by nonketotic hyperglycinemia, early-onset convulsions, encephalopathy, cardiomyopathy, and early death [49]. Here, LIAS is linked to Encephalopathy.