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Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside.
Genetic changes are related to the following types of Gaucher disease.
The signs and symptoms of Gaucher disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), and bone disease. Gaucher disease can also affect the heart and lungs.
The subtypes of Gaucher disease are grouped by their signs and symptoms. Type 1 is called non-neuronopathic Gaucher disease because the nervous system is usually not affected. The features of this disorder range from mild to severe and may appear early in life or in adulthood.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the nervous system. In addition to the signs and symptoms described above, these conditions can cause seizures and brain damage. Type 2 Gaucher disease usually causes severe medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.
Gaucher-like disease chiefly affects the heart, but may also cause bone disease and mild enlargement of the spleen.
This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The disorder affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and Gaucher-like disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.
Mutations in the GBA gene cause Gaucher disease.
Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
In medicine (hematology), '''Gaucher's disease''' (or ''Gaucher disease'', pronounced "Go-shay") is a genetic disorder that affects platelets, white blood cells, the spleen, bones, and in Types II and III, the brain. It is the most common lysosomal storage disease. It is eponym the France doctor who originally described it in 1882. The disease is caused by a mutation in the gene for the enzyme ''acid β-glucosidase'', leading to an accumulation of its substrate, the fatty substance glucocerebroside, in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain.
Molecular Genetics Testing Laboratory: Ashkenazi Jewish Genetic Disease Screen - Information about a test for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia.
Gaucher Disease - A description of this disease and who gets it. A number to call for possible free testing.
Gaucher Disease - Information for patients, relatives, doctors and researchers from an independent charity. Over two hundred pages for use by patients and doctors.
European Gaucher Alliance - Information about this international organization and the disease itself.
Gaucher Disease: Current Issues in Diagnosis and Treatment - National Institutes of Health Technology Assessment Conference Statement February 27-March 1, 1995. To provide physicians with a responsible assessment of the diagnosis and treatment of Gaucher disease.
Children with Gaucher's Disease - Information by Dr Ed Wraith about this disease in children.
Comprehensive Gaucher Treatment Center - Provides clinical evaluations for the diagnosis and treatment of patients with this disease. Information about the disease and the facility.
Gaucher Disease: Diagnosis and Treatment - Discussion on the different forms of this disease, who is at risk, how do people get it, how it is diagnosed, the treatment and cure.
Gaucher Registry - Longitudinal, observational program that tracks the health outcomes of routine clinical practice for patients with Gaucher disease.
Gaucher's Disease - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.