Gaucher disease type 2

Common Name(s)

Gaucher disease type 2, Acute neuronopathic Gaucher's disease

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Patients typically develop extensive and progressive brain damage and many die by 2 years of age. Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern. While enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease type 2" 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 2" 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 2" returned 21 free, full-text research articles on human participants. First 3 results:

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
 

Author(s): Jin-Ho Choi, Beom Hee Lee, Jung Min Ko, Young Bae Sohn, Jin-Sung Lee, Gu-Hwan Kim, Sun Hee Heo, June-Young Park, Yoo-Mi Kim, Ja-Hye Kim, Han-Wook Yoo

Journal: J. Korean Med. Sci.. 2015 Apr;30(4):378-84.

 

Gaucher disease is a lysosomal storage disease for which enzyme replacement therapy has proven to be effective. A switch-over clinical trial was performed to evaluate the efficacy and safety of Abcertin® (ISU Abxis, Seoul, Korea) in subjects with type 1 Gaucher disease who were previously ...

Last Updated: 1 Apr 2015

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Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
 

Author(s): Ying Sun, Jane Florer, Christopher N Mayhew, Zhanfeng Jia, Zhiying Zhao, Kui Xu, Huimin Ran, Benjamin Liou, Wujuan Zhang, Kenneth D R Setchell, Jianguo Gu, Gregory A Grabowski

Journal:

 

Gaucher disease (GD) is caused by insufficient activity of acid β-glucosidase (GCase) resulting from mutations in GBA1. To understand the pathogenesis of the neuronopathic GD, induced pluripotent stem cells (iPSCs) were generated from fibroblasts isolated from three GD type 2 (GD2) ...

Last Updated: 31 Mar 2015

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Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment.
 

Author(s): Elena Lukina, Nora Watman, Marta Dragosky, Gregory M Pastores, Elsa Avila Arreguin, Hanna Rosenbaum, Ari Zimran, Jennifer Angell, Leorah Ross, Ana Cristina Puga, Judith M Peterschmitt

Journal: Blood Cells Mol. Dis.. 2014 Dec;53(4):274-6.

 

Eliglustat is an investigational, oral substrate reduction therapy for Gaucher disease type 1 (GD1). Nineteen treatment-naïve patients have now completed 4years of an open-label study (NCT00358150). Mean hemoglobin level and platelet count increased by 2.3±1.5g/dL (baseline: 11.3±1.5g/dL) ...

Last Updated: 14 Oct 2014

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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 2" returned 3 free, full-text review articles on human participants. First 3 results:

The clinical management of Type 2 Gaucher disease.
 

Author(s): Karin Weiss, Ashley N Gonzalez, Grisel Lopez, Leah Pedoeim, Catherine Groden, Ellen Sidransky

Journal: Mol. Genet. Metab.. 2015 Feb;114(2):110-22.

 

Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the ...

Last Updated: 31 Jan 2015

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
 

Author(s): N Gupta, I M Oppenheim, E F Kauvar, N Tayebi, E Sidransky

Journal: Blood Cells Mol. Dis.. 2011 Jan;46(1):75-84.

 

Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the ...

Last Updated: 10 Jan 2011

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Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
 

Author(s): Shraga Aviner, Ben-Zion Garty, Avinoam Rachmel, Hagit N Baris, Ellen Sidransky, Avinoam Shuffer, Joseph Attias, Yisaac Yaniv, Ian J Cohen

Journal: Blood Cells Mol. Dis.. ;43(3):294-7.

 

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence ...

Last Updated: 19 Oct 2009

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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

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

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 28 Sep 2016

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Investigating Lysosomal Storage Diseases in Minority Groups
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders; Gaucher Disease; Fabry Disease; Pompe Disease; Niemann-Pick Disease

 

Last Updated: 28 Mar 2016

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