Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

doi:10.3390/ijms21072374

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Article

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International journal of molecular sciences - 30 Mar 2020

Vila Cuenca Marc, Marchi Giacomo, Barqué Anna, Esteban-Jurado Clara, Marchetto Alessandro, Giorgetti Alejandro, Chelban Viorica, Houlden Henry, Wood Nicholas W, Piubelli Chiara, Dorigatti Borges Marina, Martins de Albuquerque Dulcinéia, Yotsumoto Fertrin Kleber, Jové-Buxeda Ester, Sanchez-Delgado Jordi, Baena-Díez Neus, Burnyte Birute, Utkus Algirdas, Busti Fabiana, Kaubrys Gintaras, Suku Eda, Kowalczyk Kamil, Karaszewski Bartosz, Porter John B, Pollard Sally, Eleftheriou Perla, Bignell Patricia, Girelli Domenico, Sanchez Mayka

Abstract excerpt

Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (CP) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an...

Topics

Adult
Aged
Ceruloplasmin
Early Diagnosis
Female
Humans
Iron Metabolism Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Liver

Male

Middle Aged

Models, Molecular

Mutation

Neurodegenerative Diseases

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Identifiers

PMID: 32235485
DOI: 10.3390/ijms21072374
PMCID: PMC7178074

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