ABHD5 and cerebral creatine deficiency syndrome: Mutations in human CGI-58, also known as α/β hydrolase domain-containing 5 (Abhd5), lead to Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive neutral lipid storage disease characterized by ichthyosis and the accumulation of TG-rich cytosolic LDs in all cell types (Lefevre et al., 2001; Lass et al., 2006).