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

被引：11

作者：

Connemann, Bernhard J. ^{[1
]}

Gahr, Maximilian ^{[1
]}

Schmid, Markus ^{[1
]}

Runz, Heiko ^{[2
]}

Freudenmann, Roland W. ^{[1
]}

机构：

[1] Univ Ulm, Dept Psychiat & Psychotherapy 3, D-89075 Ulm, Germany

[2] Univ Heidelberg, Inst Human Genet, D-6900 Heidelberg, Germany

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2012年 / 19卷 / 04期

关键词：

Autosomal recessive copper disease; Lysosomal storage disease; Splenomegaly; Wilson disease; COPPER;

D O I：

10.1016/j.jocn.2011.05.038

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2011 Elsevier Ltd. All rights reserved.

引用

页码：620 / 621

页数：2

共 2 条

[1] An Unusual Presentation of Copper Metabolism Disorder and a Possible Connection With Niemann-Pick Type C [J].

Goez, Helly R. ;

Jacob, Francois D. ;

Fealey, Robert D. ;

Patterson, Marc C. ;

Ramaswamy, Vijay ;

Persad, Rabin ;

Johnson, Edward S. ;

Yager, Jerome Y. .

JOURNAL OF CHILD NEUROLOGY, 2011, 26 (04) :518-521

[2] Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides [J].

Yanagimoto, Chikatoshi ;

Haradaa, Masaru ;

Kumemura, Hiroto ;

Koga, Hironori ;

Kawaguchi, Takumi ;

Terada, Kunihiko ;

Hanada, Shinichiro ;

Taniguchi, Eitaro ;

Koizumi, Yukio ;

Koyota, Souichi ;

Ninomiya, Haruaki ;

Ueno, Takato ;

Sugiyama, Toshihiro ;

Sata, Michio .

EXPERIMENTAL CELL RESEARCH, 2009, 315 (02) :119-126

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