Gaucher disease type 2 is a rare and severe type of the disease. Children who inherit the disease usually don’t live past age 2, but treatment can help manage symptoms.
Gaucher disease is a rare inherited metabolic disorder. There are three types of Gaucher disease, with type 2 being very rare. Type 2 Gaucher disease also includes perinatal lethal type Gaucher disease, which is the rarest and most severe form.
In type 2 Gaucher disease, symptoms appear in early infancy and ultimately progress to affect several organ systems, including the brain. Because of this, it’s also called “neuropathic Gaucher disease.”
There’s no cure for Gaucher disease type 2. But experienced doctors and care teams can work with families to manage symptoms and develop the best possible care plans.
Symptoms of Gaucher disease type 2 usually develop early in infancy and worsen over time. For most babies, symptoms are noticeable by
- feeding difficulties (trouble sucking and swallowing)
- encephalopathy (brain damage and dysfunction)
- abnormal eye movements
- breathing problems (unusual breathing patterns, cough, and respiratory distress)
- enlarged liver and spleen
- muscle and movement problems (spasticity, dystonia, and contractures)
- bone problems
- skin abnormalities (ichthyosis)
- irregular blood counts (anemia, thrombocytopenia)
Gaucher disease type 2 is a genetic disorder caused by a mutation in the GBA gene. This gene is responsible for producing an enzyme called beta-glucocerebrosidase (GCase).
Without the GCase enzyme, your cells can’t properly process glucocerebroside lipids, an important part of all cell membranes in the body. Fatty waste products then build up inside the cells, damaging them. This can cause many organ systems not to function.
Gaucher disease type 2 is inherited in an autosomal recessive pattern. Children with Gaucher disease type 2 have inherited two copies of the GBA gene mutation — one from each biological parent.
In autosomal recessive disorders, people who inherit only one mutated gene are called carriers. They don’t have symptoms but can pass on the GBA gene mutation to their children.
Let a doctor know if you have a family history of Gaucher disease, especially when planning to start a family.
Gaucher disease is very rare, and Gaucher disease type 2 is a
If you know you have a family history of Gaucher disease, talk with your doctor, especially when you’re planning to start a family.
You should also contact your doctor if a close family member is diagnosed with Gaucher disease. Your doctor can help guide whether you or your children will need any testing.
Doctors can order blood tests to check GCase enzyme activity and to look for genetic mutations linked to Gaucher disease. Specialists like geneticists or neurologists may also be involved in the diagnostic process.
If you have a family history of Gaucher disease or genetic testing shows that you’re a carrier, your doctor can refer you to a genetic counselor. When planning to start a family, the genetic counselor can help you understand your risk and make a plan to decrease the chance of passing the gene mutation to the next generation.
There’s no cure for Gaucher disease type 2. But doctors can help manage symptoms and work with you to develop a care plan that works best for your family.
For example, you can make feeding plans with the help of a feeding therapist, nutritionist, and gastroenterologist. Medications can help control seizures, improve spasticity, manage drooling, and help with comfortable breathing.
Gaucher disease is a complex disorder. Treatment often requires a multidisciplinary care team, including:
- your child’s primary care doctor
- feeding therapist
- physical therapist
- respiratory therapist
Doctors often use enzyme replacement therapy to treat types 1 and 3 Gaucher disease. However, because the replacement enzyme cannot cross into the brain, it’s
Research into potential treatments for Gaucher disease type 2 is ongoing.
Symptoms, including neurological damage, typically progress rapidly in Gaucher disease type 2. Children with type 2 Gaucher disease typically have a life expectancy of
Resources for support
A diagnosis of Gaucher disease type 2 can be overwhelming and challenging for families. Your child’s healthcare team can help support you and answer any questions you may have. Talk with your child’s doctors about community support in your area. You may also find these organizations helpful:
Gaucher disease type 2 is sometimes called acute infantile neuropathic Gaucher disease. In type 2 disease, the onset of symptoms is earlier, and neurological symptoms tend to be more severe and rapidly progressive.
Type 1 Gaucher disease doesn’t affect the brain. Neurological involvement is variable in type 3 Gaucher disease.
How common is Gaucher disease type 2?
What is the life expectancy of someone with Gaucher disease type 2?
Children with Gaucher disease type 2 have a typical life expectancy of
Which gene is responsible for Gaucher disease type 2?
Mutations in the glucosylceramidase beta (GBA) gene cause Gaucher disease type 2.
Can genetic testing screen for Gaucher disease type 2?
Yes. Doctors usually make a diagnosis of Gaucher disease type 2 through a combination of genetic sequencing for mutations in the GBA gene and blood testing for GCase enzyme activity.
Gaucher disease type 2 is a rare inherited metabolic disorder. A mutation in the GBA gene eliminates or greatly reduces the activity of an important metabolic enzyme (GCase). This causes progressive damage to cells in all organ systems.
Infants with Gaucher disease type 2 usually show significant symptoms by 3 to 6 months of age. Damage to the brain and neurological system is severe and progressive, limiting life expectancy.
There’s no cure for Gaucher disease type 2, but research is ongoing. Doctors can work with families to manage symptoms and provide support, creating comprehensive care plans.