title: Aceruloplasminaemia: a disorder of diabetes and neurodegeneration.
abstract: Aceruloplasminaemia is an autosomal recessive disorder of iron metabolism which is characterised by diabetes, neurodegeneration and anaemia. It should be considered in the differential diagnosis of adult onset, antibody-negative diabetes associated with persistent mild anaemia and hyperferritinaemia and/or progressive neuropsychiatric impairments.
authors.affiliation: Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Genevieve L
authors.initials: GL
authors.lastname: Calder
authors.affiliation: Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Melissa H
authors.initials: MH
authors.lastname: Lee
authors.affiliation: Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Nirupa
authors.initials: N
authors.lastname: Sachithanandan
authors.affiliation: Department of Gastroenterology, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Sally
authors.initials: S
authors.lastname: Bell
authors.affiliation: Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Howard
authors.initials: H
authors.lastname: Zeimer
authors.affiliation: Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.|Department of General Medicine, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: MacIsaac
mesh_terms: D000328:Adult; D001565:Benzoates / Q000008:administration & dosage; D001921:Brain / Q000000981:diagnostic imaging; D002570:Ceruloplasmin / Q000032:analysis* / Q000172:deficiency*; D003300:Copper / Q000097:blood; D000077588:Deferasirox; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D003937:Diagnosis, Differential; D005293:Ferritins / Q000097:blood; D006801:Humans; D007328:Insulin / Q000008:administration & dosage; D007501:Iron / Q000097:blood*; D007502:Iron Chelating Agents / Q000008:administration & dosage; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000188:drug therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000188:drug therapy*; D014230:Triazoles / Q000008:administration & dosage
chemical_list: D001565:Benzoates; D007328:Insulin; D007502:Iron Chelating Agents; D014230:Triazoles; D003300:Copper; D005293:Ferritins; D007501:Iron; D002570:Ceruloplasmin; D000077588:Deferasirox
keywords: aceruloplasminaemia; anaemia; diabetes; iron metabolism; neurodegeneration