Gaucher disease is a rare genetic disorder in which your body doesn’t make enough of an enzyme that breaks down fats. The symptoms begin earlier and are more severe than in type 1 but begin later and are less severe than in type 2.
Gaucher disease is a rare genetic disorder. It causes an enzyme deficiency that means your cells cannot break down fatty molecules called lipids.
There are three types of Gaucher disease, which have different symptoms and outcomes.
Type 3 Gaucher disease is rare in the United States but more common worldwide. Babies with type 3 Gaucher disease do not have symptoms at birth, but symptoms start to appear in childhood. The condition eventually affects many body systems, including the brain and neurological system.
There is no cure for Gaucher disease, but doctors can prescribe medications and treat some of the symptoms of type 3.
Symptoms of Gaucher disease type 3 generally begin in early childhood, but the age of onset and progression can vary.
In all people with Gaucher disease type 3, the condition will eventually affect the brain. It can cause seizures and affect the ability to think and other mental functions.
Additional symptoms include:
Gaucher disease is caused by changes in your GBA gene, which is on chromosome 1. This gene encodes an important enzyme called glucocerebrosidase (GCase), which helps your cells break down fatty molecules called lipids. Without enough GCase activity, lipids build up inside your cells, damaging them.
Research has linked up to 50 different GBA gene mutations with Gaucher disease type 3. The most common mutation is L483P, which tends to affect bones and organs first and cause neurological symptoms later.
Genetic mutations can either happen at random or be inherited. Gaucher disease is inherited in an autosomal recessive pattern. People with Gaucher disease have two copies of the mutated GBA gene that causes the disease — one from each biological parent.
In autosomal recessive conditions, people who inherit only one copy of the mutated gene are called carriers of the gene. They do not have symptoms but can pass the genetic mutation to their children.
People with a family history of Gaucher disease are at greatest risk of developing it. Tell your doctor if you have a known family history of Gaucher disease, especially if you’re planning to have children.
Gaucher disease type 1 is
When doctors suspect Gaucher disease, they can order blood tests to check for reduced GCase enzyme activity.
Gene sequencing can identify known genetic mutations associated with Gaucher disease. Genetic specialists can help diagnose and counsel families affected by Gaucher disease.
If you have a family history of Gaucher disease or if genetic testing shows that you carry the gene, your doctor can refer you to a genetic counselor. If you’re trying to conceive, the genetic counselor can help you understand your risk and how you might be able to decrease the chance of passing on the genetic mutation.
There is currently no cure for Gaucher disease. But multidisciplinary teams of health experts are available to help manage the symptoms, including at comprehensive Gaucher treatment centers.
In people with Gaucher disease type 3, GCase enzyme replacement therapy (ERT) may help improve some non-neurological symptoms.
Doctors can also help manage symptoms with treatments such as:
ERT and other treatments may be able to help prevent some of the non-neurological symptoms of Gaucher disease type 3.
Although neurological symptoms may not be present right away, people with Gaucher disease type 3 will eventually develop irreversible neurological symptoms. The effects vary but often limit life expectancy.
Unlike type 1 Gaucher disease, types 2 and 3 cause neurological symptoms.
Type 3 Gaucher disease is sometimes called the subacute neuronopathic form of Gaucher disease. This is because the neurological symptoms of type 3 are more variable, generally appear slightly later, and progress more slowly than those of type 2.
Is Gaucher disease type 3 curable?
There is currently no cure for Gaucher disease. But therapies are available to help manage some of the symptoms associated with type 3 Gaucher disease.
Research into treatments for Gaucher disease is ongoing.
How common is Gaucher disease type 3?
The Genetic and Rare Diseases Information Center estimates that Gaucher disease type 3 currently affects fewer than 1,000 people in the United States.
Gaucher disease type 3 appears to be more common outside the United States, with higher prevalence in people of non-European ethnicity.
At what age does Gaucher disease type 3 occur?
People with Gaucher disease are born with a genetic mutation that causes the disease. The symptoms of type 3 Gaucher disease usually begin in
What is the life expectancy of someone with Gaucher disease type 3?
The neurological effects of Gaucher disease type 3 typically limit life expectancy, but the disease course is quite variable. With current treatments, some people may survive into their
Is Gaucher disease type 3 a disability?
The neuromotor, vision, bone, and other symptoms associated with Gaucher disease type 3 may be disabling.
Doctors can create a plan to manage the symptoms and maximize functioning. They can also help you understand your child’s current or potential future disability.
Gaucher disease is a rare genetic disorder that affects your body’s ability to break down fats. In Gaucher disease type 3, symptoms usually develop in young childhood and eventually progress to involve multiple body systems, including the brain.
There is no cure for Gaucher disease. But doctors can help prevent and treat some of the symptoms of type 3 Gaucher disease with ERT and other supportive care.
There is currently no treatment available for the neurological effects of Gaucher disease type 3, which can limit life expectancy. Research into new treatments is ongoing.