Mutations in ATP7A are associated with Menkes disease (MD) (Chelly et al., 1993; Mercer et al., 1993; Vulpe et al., 1993), while ATP7B mutations cause Wilson's disease (WD) (Bull et al., 1993) (reviewed in Gupta and Lutsenko, 2009; Kaler, 2011; Telianidis et al., 2013). Here, ATP7A is linked to Menkes disease.