ACAT2 and cystinosis: Thus, on a broader perspective, this epigenetic mechanism could be associated with other IEMs, as for example: Sandhoff disease (OMIM #268800), ACAT2 deficiency (OMIM #203750), Mucolipidosis III gamma (OMIM #252605), cystinosis (OMIM #219800, 219750 and 219900) and galactosialidosis (OMIM #256540).