Impacts of Copper Metabolism Disorder on Multiple Systems in Menkes Disease.

Abstract

Menkes disease is a rare X-linked recessive multisystem copper metabolism disorder first reported in 1962.Recent studies have shown that its incidence and mortality rates may be underestimated due to miscarriages and early deaths.The clinical manifestations of Menkes disease are closely related to copper metabolism disorder，mainly characterized by neurodegeneration and vascular and connective tissue abnormalities.These symptoms stem from copper transport disorders and abnormal activity of copper-dependent enzymes caused by copper metabolism disorder.By integrating clinical symptoms and mechanism analysis，this paper reveals the core role of copper metabolism disorder in the multisystem damage of Menkes disease，providing a theoretical basis for early diagnosis and intervention.