Mutations in CGI-58 (a coactivator of ATGL), are associated with NLSD with ichthyosis known as Chanarin-Dorfmann syndrome (CDS) characterized by defective permeability barrier of the skin [128–130]; whereas, ATGL mutations lead to severe NLSD with cardiac myopathy (NLDSM) [131]. This evidence concerns the gene PNPLA2 and cerebral creatine deficiency syndrome.