biostudies-literatureVila Cuenca MVeneto RegionSpanish Secretary of Research, Development and Innovation (MINECO) SpainMedical Research CouncilWellcome TrustFondazione CariveronaE2374https://www.ebi.ac.uk/biostudies/studies/S-EPMC7178074biostudies-literatureUnknown21(7)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 (<i>CP</i>) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan. Prompt diagnosis and therapy are crucial to prevent neurological complications since, once established, they are usually irreversible. Here, we describe the largest series of non-Japanese patients with aceruloplasminemia published so far, including 13 individuals from 11 families carrying 13 mutations in tInternational journal of molecular sciencesGenetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.PMC7178074104033G10012532016/08072-9SAF2015-70412-R2014.0851PRIHTA no.2014-00000451G08027602014/00984-3Eleftheriou PKaubrys GJove-Buxeda EYotsumoto Fertrin KMarchetto APorter JBBarque AWood NWSanchez-Delgado JChelban VSanchez MSuku EBurnyte BBaena-Diez NDorigatti Borges MBignell PHoulden HMartins de Albuquerque DPiubelli CGirelli DVila Cuenca MKowalczyk KKaraszewski BMarchi GGiorgetti AEsteban-Jurado CUtkus ABusti FPollard SfalseGenetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.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 (<i>CP</i>) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan. Prompt diagnosis and therapy are crucial to prevent neurological complications since, once established, they are usually irreversible. Here, we describe the largest series of non-Japanese patients with aceruloplasminemia published so far, including 13 individuals from 11 families carrying 13 mutations in t2020-01-01T00:00:00Z2020 Mar2026-05-03T02:51:10.184Z2020-05-22T18:31:55ZS-EPMC71780743223548510.3390/ijms21072374