Learn About Gaucher Disease

What is the definition of Gaucher Disease?

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

Save information for later
Sign Up
What are the causes of Gaucher Disease?

Variants (also known as mutations) in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Variants in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.

What are the different types of Gaucher Disease?
How prevalent is Gaucher Disease?

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder in Europe, Israel, Canada, and the United States. This form occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds; it affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. These types can be more prevalent than type 1 in certain regions, such as Egypt, India, Japan, Poland, and Sweden.

Is Gaucher Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Who are the top Gaucher Disease Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Gaucher Disease Clinical Trials?
An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasound, Coombs test and Epst...

Match to trials
Find the right clinical trials for you in under a minute
Get started
A Post Marketing Surveillance (PMS) Study for VPRIV (Velaglucerase Alfa) in India

Summary: The purpose of this post-marketing survey study is to determine the safety and evaluate effectiveness in participants receiving VPRIV when used in the post-marketing setting and to collect and record genetic mutation data from participants with Gaucher disease.

Who are the sources who wrote this article ?

Published Date: November 01, 2022Published By: National Institutes of Health

What are the Latest Advances for Gaucher Disease?
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).
Tired of the same old research?
Check Latest Advances