Skip to Main content Skip to Navigation
Journal articles

Surcharges en fer génétiques : atypies de l'acéruloplasminémie héréditaire

Abstract : The knowledge in iron metabolism obtained in the last 20 years has made it possible to draw up an understandable picture of the systemic metabolism of iron. This is mainly due to the identification of proteins playing a major role in the systemic distribution of iron. However, some rare iron metabolism diseases, including Hereditary Aceruloplasminemia (AH), are not fully understood. AH is a genetic disease of recessive inheritance, linked to mutations within the gene encoding the ceruloplasmin, a multicopper oxidase. Mutations lead to the loss of the ferroxidase activity of the protein and favors the development of a parenchymal iron overload, affecting the liver, the pancreas, but also, a unique fact in systemic iron overload disease, the brain. The peculiarity of the hepatosplenic phenotype, which surprisingly spares hepatic and spleen macrophages regarding the potential biological role of ceruloplasmin together with the existence of a cerebral iron overload, certainly account for the existence of complementary mechanisms contributing to the disease. Their understanding will make it possible to improve the follow-up of patients and to obtain new knowledge on iron metabolism for the management of other diseases in which the abnormal accumulation of iron in the brain plays a determining role.
Document type :
Journal articles
Complete list of metadata

Cited literature [54 references]  Display  Hide  Download
Contributor : Laurent Jonchère <>
Submitted on : Monday, November 25, 2019 - 4:36:10 PM
Last modification on : Thursday, August 12, 2021 - 5:03:31 PM
Long-term archiving on: : Wednesday, February 26, 2020 - 6:40:56 PM


Loreal_Surcharges en fer gén...
Files produced by the author(s)



Olivier Loréal. Surcharges en fer génétiques : atypies de l'acéruloplasminémie héréditaire. Bulletin de l'Académie Nationale de Médecine, Elsevier Masson, 2019, 203 (6), pp.432-439. ⟨10.1016/j.banm.2019.05.013⟩. ⟨hal-02310283⟩



Record views


Files downloads