Aceruloplasminemia: a case report
- Autori: DI RAIMONDO, D.; Pinto, A.; Tuttolomondo, A.; Fernandez, P.; Camaschella, C.; Licata, G.
- Anno di pubblicazione: 2008
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/34044
Hereditary aceruloplasminemia is a rare autosomal recessive disease, firstly identified by Miyajima et al. in Japan in 1987. The disease is caused by the absence of an a2- glycoprotein, the ceruloplasmin (Cp), a copper-containing ferroxidase, mainly synthesized in hepatocytes and widely expressed, including the central nervous system, which catalyses the oxidation of ferrous to ferric iron, a change required for release of iron to plasma transferrin.