Gaucher disease type 3

Common Name(s)

Gaucher disease type 3, Subacute neuronopathic Gaucher's disease

Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. {21:Patterson et al. (1993)} suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC ({231005}), which is associated with cardiovascular calcifications.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease type 3" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 21 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease type 3" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 21 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher disease type 3" returned 10 free, full-text research articles on human participants. First 3 results:

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
 

Author(s): Thomas A Burrow, Ying Sun, Carlos E Prada, Laurie Bailey, Wujuan Zhang, Amanda Brewer, Steve W Wu, Kenneth D R Setchell, David Witte, Mitchell B Cohen, Gregory A Grabowski

Journal: Mol. Genet. Metab.. 2015 Feb;114(2):233-41.

 

A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11 years, experienced progressive mesenteric and retroperitoneal lymphadenopathy, lung disease, and neurological involvement leading to death at an age of 12.5 years. Autopsy showed significant ...

Last Updated: 31 Jan 2015

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Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.
 

Author(s): Maciej Machaczka, Cecilia Kämpe Björkvall, Joanna Wieremiejczyk, Martin Paucar Arce, Kristina Myhr-Eriksson, Monika Klimkowska, Hans Hägglund, Per Svenningsson

Journal: Arch. Immunol. Ther. Exp. (Warsz.). 2015 Feb;63(1):65-71.

 

A viral contamination of the production plant producing imiglucerase (Cerezyme™) resulted in an unpredicted worldwide shortage of global supplies during 2009-2010. The aim of the study was to describe the effects of dose reduction of enzyme replacement therapy (ERT) in adults with ...

Last Updated: 12 Jan 2015

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The saccadic and neurological deficits in type 3 Gaucher disease.
 

Author(s): William Benko, Markus Ries, Edythe A Wiggs, Roscoe O Brady, Raphael Schiffmann, Edmond J Fitzgibbon

Journal: PLoS ONE. 2011 ;6(7):e22410.

 

Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher ...

Last Updated: 29 Jul 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher disease type 3" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1; Gaucher Disease Type 3

 

Last Updated: 18 Aug 2015

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GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3
 

Status: Not yet recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 16 Sep 2016

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SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 7 Sep 2016

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