Low ceruloplasmin in a patient with Niemann-Pick type C disease

Bernhard J Connemann; Maximilian Gahr; Markus Schmid; Heiko Runz; Roland W Freudenmann

doi:10.1016/j.jocn.2011.05.038

Low ceruloplasmin in a patient with Niemann-Pick type C disease

J Clin Neurosci. 2012 Apr;19(4):620-1. doi: 10.1016/j.jocn.2011.05.038. Epub 2012 Jan 24.

Authors

Bernhard J Connemann¹, Maximilian Gahr, Markus Schmid, Heiko Runz, Roland W Freudenmann

Affiliation

¹ Department of Psychiatry and Psychotherapy III, University of Ulm, Leimgrubenweg 12, Ulm 89075, Germany.

PMID: 22269206
DOI: 10.1016/j.jocn.2011.05.038

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.

Publication types

Case Reports

MeSH terms

Adult
Carrier Proteins / genetics
Ceruloplasmin / analysis*
Copper / metabolism
Diagnostic Errors
Female
Hepatolenticular Degeneration / blood
Hepatolenticular Degeneration / diagnosis
Humans
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins / genetics
Mutation
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C / blood*
Niemann-Pick Disease, Type C / diagnosis*
Niemann-Pick Disease, Type C / physiopathology
Schizophrenia / blood
Schizophrenia / diagnosis

Substances

Carrier Proteins
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins
NPC1 protein, human
Niemann-Pick C1 Protein
Copper
Ceruloplasmin