Mutations in NSDHL are associated with the very rare CHILD syndrome in humans, which is an X-linked dominant disorder of lipid metabolism (Konig et al. 2000; Bornholdt et al. 2005), as well as the recently described CK syndrome (du Souich et al. 2009; McLarren et al. 2010). The gene discussed is NSDHL; the disease is CK syndrome.