Hereditary aceruloplasminemia (HA) is a rare autosomal recessive neurodegenerative disorder characterized by iron deposition in the brain and visceral organs, such as liver and pancreas.(1) It results from mutations of the CP gene,(2) which cause the absence of ceruloplasmin (CP), a copper-containing ferroxidase, which catalyzes the oxidation of ferrous to ferric iron, a change required for the normal transportation of iron by plasma transferrin.
Clinical/Scientific Notes
Fasano A
2015-01-01
Abstract
Hereditary aceruloplasminemia (HA) is a rare autosomal recessive neurodegenerative disorder characterized by iron deposition in the brain and visceral organs, such as liver and pancreas.(1) It results from mutations of the CP gene,(2) which cause the absence of ceruloplasmin (CP), a copper-containing ferroxidase, which catalyzes the oxidation of ferrous to ferric iron, a change required for the normal transportation of iron by plasma transferrin.File in questo prodotto:
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