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.

National Gaucher Foundation

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: 9 Nov 2014

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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.

National Gaucher Foundation

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: 9 Nov 2014

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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 18 free, full-text research articles on human participants. First 3 results:

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
 

Author(s): Pramod K Mistry, Jun Liu, Li Sun, Wei-Lien Chuang, Tony Yuen, Ruhua Yang, Ping Lu, Kate Zhang, Jianhua Li, Joan Keutzer, Agnes Stachnik, Albert Mennone, James L Boyer, Dhanpat Jain, Roscoe O Brady, Maria I New, Mone Zaidi

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Apr;111(13):4934-9.

 

The inherited deficiency of the lysosomal glucocerebrosidase (GBA) due to mutations in the GBA gene results in Gaucher disease (GD). A vast majority of patients present with nonneuronopathic, type 1 GD (GD1). GBA deficiency causes the accumulation of two key sphingolipids, glucosylceramide ...

Last Updated: 7 Apr 2014

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Cholelithiasis in a patient with type 2 Gaucher disease.
 

Author(s): Makoto Migita, Sakae Kumasaka, Tae Matsumoto, Hanako Tajima, Takahiro Ueda, Atsuyuki Yamataka

Journal: J Nippon Med Sch. 2014 ;81(1):40-2.

 

Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of ...

Last Updated: 11 Mar 2014

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Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
 

Author(s): Aegean Chan, Walter M Holleran, Tajh Ferguson, Debra Crumrine, Ozlem Goker-Alpan, Raphael Schiffmann, Nahid Tayebi, Edward I Ginns, Peter M Elias, Ellen Sidransky

Journal: Mol. Genet. Metab.. 2011 Dec;104(4):631-6.

 

Type 2 Gaucher disease is a rare and progressive subtype of this lysosomal storage disorder, marked by rapid, early-onset neurodegeneration. Distinguishing type 2 from types 1 and 3 Gaucher disease has remained challenging, due to the lack of a clear correlation between phenotype ...

Last Updated: 25 Nov 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 2" returned 2 free, full-text review articles on human participants. First 3 results:

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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 21 Apr 2014

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