PNPLA1 and Dorfman-Chanarin disease: The enzymatic activity of PNPLA1 is enhanced by ABHD5, which may present triglycerides to PNPLA1 to facilitate substrate recognition [172,173], providing a mechanism whereby ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis with impaired ω-O-acylceramide formation.