What to Know About Gaucher Disease Type 2

Symptoms of Gaucher disease type 2 usually develop early in infancy and worsen over time. For most babies, symptoms are noticeable by 3 months of age. Symptoms include:

• feeding difficulties (trouble sucking and swallowing)
• encephalopathy (brain damage and dysfunction)
• seizures
• 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.

Type 1 Gaucher disease is more common in people of Ashkenazi Jewish ancestry. But Gaucher disease types 2 and 3 are more prevalent in people who are not of European heritage.

Gaucher disease is very rare, and Gaucher disease type 2 is a rare form of the disorder. However, you should always contact your baby’s doctor immediately if you have concerns about their feeding, breathing, or neurological development.

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.

In some states, newborns undergo screening for Gaucher disease as part of the routine newborn screen, a blood test taken from every baby shortly after birth.

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
• nutritionist
• respiratory therapist
• neurologist

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 not helpful for the severe neurological damage in Gaucher disease type 2.

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 less than 2 years.

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?

Gaucher disease type 2 is very rare. The Genetic and Rare Diseases Information Center (GARD) estimates that Gaucher disease type 2 currently affects fewer than 1,000 people in the United States.

The most severe form of Gaucher disease (perinatal lethal type) is a variant of type 2 and is the rarest form.

What is the life expectancy of someone with Gaucher disease type 2?

Children with Gaucher disease type 2 have a typical life expectancy of less than 2 years.

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.