WES analysis of the proband and both parents identified the novel de novo ATP7A variant c.3642_3649dup (p.Ala1217Aspfs*2), leading to a diagnosis of Menkes disease, and the co-occurrence of homozygous variant c.1057C>T (p.Arg353Cys) in the ACY1 gene causative of Aminoacylase-1 deficiency. The gene discussed is ATP7A; the disease is Menkes disease.