As above, the mutation of ABHD5 in humans causes Chanarin-Dorfman syndrome, neutral lipid storage disease with ichthyosis.12 While hepatosteatosis and other factors may contribute, the development of T2D is reported in Chanarin-Dorfman syndrome,27,28 which does not contradict the beta cell dysfunction demonstrated in ABHD5 deficient beta cell models. This evidence concerns the gene ABHD5 and Dorfman-Chanarin disease.