What to Know About Gaucher Disease Type 3

A rare hereditary condition known as Gaucher disease causes your body to produce insufficient amounts of an enzyme that breaks down fats. Compared to type 1, the symptoms start later and are less severe, but they also start earlier and are more severe than type 2.

An uncommon genetic condition is called Gaucher disease. It results in an enzyme deficit that prevents your cells from metabolising lipids, which are fatty substances.

Gaucher illness exists in three varieties, each with unique symptoms and prognoses.

While more prevalent globally, type 3 Gaucher disease is uncommon in the United States. Type 3 Gaucher disease does not cause symptoms in newborns; instead, symptoms develop in infancy. In due course, the illness impacts numerous bodily systems, such as the brain and nervous system.

Although there is no known treatment for Gaucher disease, physicians can prescribe drugs to manage some of the type 3 symptoms.

What are the symptoms of Gaucher disease type 3?

The development and progression of Gaucher disease type 3 symptoms can occur at any age, although they usually start in early childhood.

All cases of type 3 Gaucher disease will eventually result in brain damage. It can impair thought processes and other mental abilities and result in seizures.

Other signs and symptoms include:
  • irregular eye movements
  • bone problems
  • lung disease
  • fatigue
  • slow growth and delayed puberty
  • difficulties with movement and coordination
  • enlarged liver and spleen
  • irregular blood counts

What causes Gaucher disease type 3?

Your GBA gene, located on chromosome 1, is altered, and this leads to Gaucher disease. This gene produces the crucial enzyme glucocerebrosidase (GCase), which aids in the breakdown of lipids—fatty molecules—by your cells. Your cells become damaged when lipids accumulate inside of them due to insufficient GCase action.

Up to 50 distinct GBA gene mutations have been connected in studies to Gaucher disease type 3. The most prevalent mutation, L483P, typically affects the bones and organs initially before causing neurological problems.

Genetic mutations can be inherited or arise randomly. The pattern of inheritance for Gaucher disease is autosomal recessive. The defective GBA gene that causes Gaucher disease is present in two copies in affected individuals, one from each biological parent.

People who inherit a single copy of the mutant gene in autosomal recessive situations are referred to as carriers of the gene. Despite not having any symptoms, they can pass on the genetic abnormality to their progeny.

Who is at risk of Gaucher disease type 3?

The chance of having Gaucher disease is highest in those with a family history of the condition. If there is a known family history of Gaucher disease, let your doctor know. This is especially important if you intend to become pregnant.

While varieties 2 and 3 of Gaucher's illness affect persons of various ethnicities, type 1 of the disease is more common in those of Ashkenazi Jewish heritage. The prevalence of type 3 is higher in non-European ancestors.

How do doctors diagnose Gaucher disease type 3?

Doctors can request blood testing to look for decreased GCase enzyme activity when they suspect Gaucher's illness.

Gaucher disease-related genetic mutations can be found by gene sequencing. Genetic experts can identify and guide families impacted by Gaucher disease.

In certain areas, a regular blood test for newborn screening includes a Gaucher disease screening.

Your doctor can recommend you to a genetic counsellor if you have a family history of Gaucher's illness or if genetic testing reveals that you contain the gene. The genetic counsellor can assist you in understanding your risk and potential ways to reduce the likelihood of passing on the genetic mutation if you're attempting to conceive.

What is the treatment for Gaucher disease type 3?

Gaucher disease presently has no known treatment. However, diverse groups of medical professionals, particularly those at extensive Gaucher treatment facilities, are available to assist in managing the symptoms.

GCase enzyme replacement therapy (ERT) has been shown to aid with a few non-neurological symptoms in patients with Gaucher disease type 3.

Type 2 or type 3 Gaucher disease causes neurological impairment for which ERT is ineffective since the replacement enzyme is unable to penetrate the brain.

Physicians can also provide therapies like these to assist in controlling symptoms:
  • drugs and dietary supplements to treat bone pain and osteoporosis
  • when necessary, procedures include splenectomy or joint replacement
  • blood transfusions

What is the outlook for people with Gaucher disease type 3?

Certain Gaucher disease type 3 non-neurological symptoms may be avoided with ERT and other treatments.

People with Gaucher disease type 3 will eventually experience permanent neurological symptoms, even if they might not appear right away. While the consequences differ, they frequently shorten life expectancy.

How does Gaucher disease type 3 differ from other types?

Types 2 and 3 of Gaucher disease produce neurological symptoms, in contrast to type 1.

The subacute neuronopathic variant of Gaucher disease is another name for type 3 disease. This is because, in comparison to type 2, type 3 neurological symptoms are more varied, often manifest a little later, and proceed more slowly.


An uncommon hereditary condition called Gaucher disease impairs your body's capacity to digest lipids. The symptoms of Gaucher disease type 3 typically start in early childhood and later spread to other body systems, including the brain.

Gaucher disease does not have a treatment. However, ERT and other supportive treatments can help prevent and treat some of the symptoms of type 3 Gaucher disease.

The neurological consequences of Gaucher disease type 3, which can shorten life expectancy, presently have no known treatment. New therapy research is still in progress.


Is Gaucher disease type 3 curable?

However, Gaucher disease type 3 treatment solely deals with issues about the bones, organs, and blood. It doesn't repair neurological damage or enhance brain function. Babies with type 2 Gaucher disease die during the first three years of life due to severe brain damage.

Can you live a normal life with Gaucher disease?

A person's performance is based on the disease subtype they have. Early death is a possibility with the Type 2 infantile variant of Gaucher disease. Most impacted kids pass away before turning five. When receiving enzyme replacement therapy, adults with the type 1 variant of Gaucher disease can anticipate living a normal life.

How much does Gaucher's treatment cost?

The cornerstone of treating Gaucher disease is enzyme replacement therapy (ERT), which can cost anywhere from $139,000 to over $300,000 annually (1). Throughout their treatment, patients frequently run into unforeseen costs, such as travel expenses and emergency room fees.

Is Gaucher disease serious?

Babies at three to six months old are affected by this type of illness. It is lethal. Children typically don't live past the age of two.

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