What to Know About Gaucher Disease Type 2

Type 2 Gaucher disease is an extremely rare and severe form of the illness. Although medication can help moderate symptoms, children who inherit the condition typically do not live past the age of two.

An uncommon inherited metabolic condition is called Gaucher disease. Gaucher illness comes in three forms, the second of which is quite uncommon. The rarest and most severe kind of Gaucher illness, perinatal deadly type Gaucher disease, is also included in type 2.

Early infancy is when type 2 Gaucher disease symptoms first occur, and they eventually spread to impair multiple organ systems, including the brain. It is also known as "neuropathic Gaucher disease" as a result.

Type 2 Gaucher illness is incurable. However, skilled medical professionals and care teams may collaborate with families to manage symptoms and create the most effective care regimens.

What are the symptoms of Gaucher disease type 2?

Gaucher disease type 2 symptoms typically appear early in infancy and get worse over time. Most babies exhibit symptoms by the time they are three months old. Among the symptoms are:
  • seizures
  • abnormal eye movements
  • enlarged liver and spleen
  • bone problems
  • skin abnormalities (ichthyosis)
  • erratic blood counts (thrombocytopenia, anaemia)
  • feeding issues (difficulties eating and sucking)
  • Encephalopathy (damage and malfunction of the brain)
  • breathing issues (atypical breathing habits, coughing, and breathing difficulties)
  • issues with the muscles and movements (contractures, dystonia, and spasticity)

What causes Gaucher disease type 2?

A mutation in the GBA gene results in a hereditary illness known as Gaucher disease type 2. The enzyme known as beta-glucocerebrosidase (GCase) is produced by this gene.

Your cells cannot correctly metabolise glucocerebroside lipids, which are a crucial component of all cell membranes in the body if the GCase enzyme is absent. Subsequently, fatty waste products accumulate within the cells, causing damage. Numerous organ systems may become dysfunctional as a result.

The pattern of inheritance for Gaucher disease type 2 is autosomal recessive. The GBA gene mutation is inherited in two copies by children with Gaucher disease type 2—one copy from each biological parent.

Carriers are persons who inherit one mutant gene in autosomal recessive illnesses. Despite not having any symptoms, they can pass the GBA gene mutation on to their progeny.

Who is at risk of Gaucher disease type 2?

In particular, if you intend to start a family, let a doctor know whether there is a family history of Gaucher's illness.

People of Ashkenazi Jewish descent are more likely to suffer from type 1 Gaucher illness. However, those who are not of European descent are more likely to have types 2 and 3 of Gaucher disease.

When to contact a doctor

Type 2 Gaucher disease is a very rare variation of the extremely rare condition Gaucher disease. However, if you have any worries regarding your baby's feeding, breathing, or neurological development, you should always get in touch with their doctor right away.

Speak with your doctor if you know you have a family history of Gaucher disease, particularly if you intend to start a family.

If Gaucher disease is discovered in a close relative, you should also get in touch with your physician. If you or your kids need any testing, your doctor can advise you on that.

How do doctors diagnose Gaucher disease type 2?

Blood tests can be ordered by doctors to measure the activity of the GCase enzyme and search for genetic abnormalities associated with Gaucher's disease. The diagnosis process may also involve specialists such as neurologists or geneticists.

As part of the regular newborn screen, which involves drawing blood from each baby soon after birth, newborns in some states are screened for Gaucher disease.

Your doctor can recommend you to a genetic counsellor if you have a family history of Gaucher disease or if genetic testing reveals that you are a carrier. The genetic counsellor can assist you in determining your risk and creating a strategy to lower the likelihood of passing on the gene mutation to the following generation if you choose to start a family.

What is the treatment for Gaucher disease type 2?

Type 2 Gaucher illness is incurable. Doctors, however, can assist you in creating a treatment plan that is most effective for your family and can help control symptoms.

For instance, a feeding therapist, dietitian, and gastroenterologist can assist you in creating feeding plans. Drugs can help moderate drooling, reduce spasticity, reduce seizures, and facilitate comfortable breathing.

Gaucher disease is an intricate illness. A multidisciplinary care team is frequently needed for treatment, consisting of:
  • your child’s primary care doctor
  • nutritionist
  • respiratory therapist
  • neurologist
  • feeding therapist
  • physical therapist
Enzyme replacement therapy is a common treatment used by doctors to treat Gaucher disease types 1 and 3. Nevertheless, the replacement enzyme is ineffective for treating Gaucher disease type 2's severe neurological impairment since it cannot enter the brain.

Treatments for Gaucher disease type 2 are still being researched.

What is the outlook for people with Gaucher disease type 2?

In Gaucher disease type 2, symptoms, especially neurological impairment, usually worsen quickly. The life expectancy of children with type 2 Gaucher disease is usually less than two years.

Resources for support

For families, receiving a type 2 Gaucher disease diagnosis can be stressful and daunting. The medical staff caring for your child can assist you and address any concerns you may have. Consult your child's physicians about local community resources. These organisations might be beneficial to you as well:
  • Gaucher Community Alliance
  • Children’s Gaucher Research Fund
  • National Gaucher Foundation (NGF)
  • National Organization for Rare Disorders (NORD)
  • Global Genes

How does Gaucher disease type 2 differ from other types?

Acute infantile neuropathic Gaucher disease is another name for Gaucher disease type 2. Neurological symptoms in type 2 disease tend to be more severe and worsen more quickly than in type 1 disease.

Gaucher disease type 1 does not affect the brain. The degree of neurological damage in Gaucher disease type 3 varies.


Type 2 Gaucher disease is an uncommon genetic metabolic illness. An essential metabolic enzyme (GCase) is either completely inactive or significantly reduced in activity by a mutation in the GBA gene. Cells in every organ system suffer increasing damage as a result of this.

By the time they are 3 to 6 months old, infants with Gaucher disease type 2 typically exhibit noticeable symptoms. Life expectancy is reduced by severe and progressive damage to the brain and nervous system.

Gaucher disease type 2 has no known cure, although research is still being done. To control symptoms and offer support, doctors can collaborate with families to develop thorough care plans.


Is Gaucher disease type 2 treatable?

There's no treatment for Gaucher disease type 2

Is there surgery for Gaucher disease?

To manage skeletal damage, patients with Gaucher disease may need hip replacements or other orthopaedic surgeries. 

Can you live a normal life with Gaucher disease?

When receiving enzyme replacement therapy, adults with the type 1 variant of Gaucher disease can anticipate living a normal life.

Can people with Gaucher disease have children?

All offspring will receive the "Gaucher gene" from the parent with the disease, making them carriers, if one parent has Gaucher Disease and the other parent neither has the condition nor is a carrier. None of these kids will go on to develop Gaucher Disease.

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