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.
DI RAIMONDO, D., PINTO, A., TUTTOLOMONDO, A., FERNANDEZ, P., CAMASCHELLA, C., LICATA, G. (2008). Aceruloplasminemia: a case report. INTERNAL AND EMERGENCY MEDICINE, 3(4), 395-399 [10.1007/s11739-008-0150-2].
Aceruloplasminemia: a case report
DI RAIMONDO, Domenico;PINTO, Antonio;TUTTOLOMONDO, Antonino;FERNANDEZ, Paola;LICATA, Giuseppe
2008-01-01
Abstract
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.
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