Symptoms include tiredness, pain, bone deterioration, broken bones, anemia, and increased bruising.
Symptoms of Gaucher disease can start in infancy, childhood, or adulthood.
Symptoms of Type 3 Gaucher disease begin during early childhood with symptoms like Type 1.
The symptoms of Gaucher disease can be stopped and even reversed by treatment with injections of enzyme replacements.
Three types of Gaucher disease have been identified, but there are many variations in how symptoms develop.
The pain and deformities associated with symptoms of Gaucher disease can make coping with this illness very challenging for individuals and families.
With treatment and control of symptoms, people with Type 1 Gaucher disease may lead fairly long and normal lives.
Symptoms of Type 2 Gaucher disease, which are similar to those in Type 1, progress rapidly, but also include nervous system damage.
Gaucher disease may be suspected based on symptoms and is confirmed with a blood test for levels of the enzyme. Samples of tissue from an affected area may also be used to confirm a diagnosis of the disease.
Gaucher's Disease is Familial Splenic Anemia.
Gaucher's disease is located on chromosome 1, which is not the sex chromosome, so no. It is not a sex linked disease.
Gaucher disease is the most common lysosomal storage disease. It was named for the French physician Phillipe Gaucher who first described it in 1882. The disease is caused by a lack of glucocerebrosidase, which causes a buildup of glucocerebroside in the tissues.
Gaucher disease