title: Low ceruloplasmin in a patient with Niemann-Pick type C disease.
abstract: We present a 28-year-old woman with a diagnosis of Niemann-Pick type C disease which was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper. This report supports the hypothesis that NPC1 could play a role in copper metabolism.
authors.affiliation: Department of Psychiatry and Psychotherapy III, University of Ulm, Leimgrubenweg 12, Ulm 89075, Germany.
authors.forename: Bernhard J
authors.initials: BJ
authors.lastname: Connemann
authors.forename: Maximilian
authors.initials: M
authors.lastname: Gahr
authors.forename: Markus
authors.initials: M
authors.lastname: Schmid
authors.forename: Heiko
authors.initials: H
authors.lastname: Runz
authors.forename: Roland W
authors.initials: RW
authors.lastname: Freudenmann
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002570:Ceruloplasmin / Q000032:analysis*; D003300:Copper / Q000378:metabolism; D003951:Diagnostic Errors; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000097:blood* / Q000175:diagnosis* / Q000503:physiopathology; D012559:Schizophrenia / Q000097:blood / Q000175:diagnosis
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D003300:Copper; D002570:Ceruloplasmin