Use of zinc in the treatment of aceruloplaminemia

Abstract

Background: Ceruloplasmin regulates the efficiency of iron efflux from the cells, functioning as a ferroxidase, and stabilizes the cell surface iron transporter. Aceruloplasminemia is classified as a neurodegeneration with brain iron accumulation disorder associated with systemic iron-overload syndrome. This disease is caused by loss-of-function mutations encoding the ceruloplasmin gene. The clinical manifestations of retinal degeneration, diabetes mellitus, iron-refractory anemia and neurologic disease correspond to the regions of iron deposition. The neurological manifestations include ataxia, involuntary movements and cognitive dysfunction. Autopsy brain tissue showed iron deposited in both the astrocytes and neurons and decreased zinc concentrations. Iron chelating agents decrease brain iron stores and prevent the progression of neurologic symptoms. However, there is no universally accepted regimen.