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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. Gaucher-like disease has different signs and symptoms than the three other recognized types of Gaucher disease, although they are caused by mutations in the same gene.
Gaucher-like disease is a subtype of Gaucher disease.
This disorder is known as the cardiovascular form of Gaucher disease because it chiefly affects the heart, causing the heart valves to harden (calcify). Other signs and symptoms include cloudiness of the front part of the eye (the cornea), difficulty with eye movements, bone disease, and mild spleen enlargement (splenomegaly).
This disease is very rare; it has been reported in only a few patients worldwide.
Mutations in the GBA gene cause Gaucher-like disease.
Gaucher-like disease occurs when a person has a specific, rare mutation in two copies of the GBA gene that leads 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-like 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.