Deficiency of CGI-58 in man leads to a rare autosomal recessive disease of lipid metabolism, Chanarin-Dorfman syndrome (also called neutral lipid storage disease with ichthyosis; OMIM 275630), characterized by the presence of abnormally large amounts of TG-rich lipid droplets in many tissues [23,24]. This evidence concerns the gene ABHD5 and neutral lipid storage disease.