Menkes disease: Case report

Abstract

Menkes disease is an X-linked lethal multisystem disorder caused by the disturbances of copper distribution in different tissues due to the mutation of ATPA7 gene. The estimated prevalence of the disease is 1 in 100,000 to 1 in 250,000 (Kirodian et al., 2002).

Keywords

• Ceruloplasmin
• Menkes disease
• pili torti