Gaucher Type 3

What is Gaucher type 3?

Gaucher disease is a rare, inherited disorder that can affect many of the body’s systems. Three clinical forms of Gaucher disease with unique characteristics have been identified. Unlike other forms of the disease, Gaucher type 3 involves the brain and spinal cord (central nervous system) and progresses relatively slowly. Gaucher disease is one of approximately 50 diseases classified as lysosomal storage disorders (LSD).

What are lysosomes and what do they do?

Lysosomes contain specific proteins (enzymes) that are responsible for breaking down and recycling molecules such as fats and sugars. Individuals with a lysosomal storage disorder lack one of these necessary enzymes or do not have one of these enzymes in sufficient quantities to break down molecules for proper cell function.

What causes Gaucher type 3 in children?

Gaucher type 3 is caused by a mutation in the GBA gene, which results reduced activity of an enzyme known as beta-glucocerebrosidase, which is responsible for breaking down a fatty substance called glucocerebroside in our cells. Without enough of this specific enzyme, glucocerebroside and related molecules can build to toxic levels within the body’s cells and tissues, leading to Gaucher disease.

Gaucher type 3 is a genetic condition that is inherited in an autosomal recessive pattern, which means that an affected child has received one defective copy of the GBA gene from each of their parents.

What are the symptoms of Gaucher type 3?

Signs and symptoms of Gaucher type 3 generally present in early childhood and can vary depending on the particular subtype, type 3a, type 3b and type 3c.

Symptoms of Gaucher type 3a

  • abnormal eye movements
  • abnormal skeletal development
  • lung disease
  • hardening of heart valves
  • abnormal skull formation (brachycephaly)
  • enlargement of the spleen (splenomegaly)

Symptoms of Gaucher type 3b

  • abnormal eye movements
  • abnormal skeletal development
  • enlargement of the liver (hepatomegaly)
  • delayed growth
  • lung disease
  • gradual cognitive decline

Symptoms of Gaucher type 3c

  • abnormal eye movement
  • seizures
  • lung disease
  • abnormal skeletal development
  • loss of previous developmental milestones

Treatment for Gaucher type 3

There are currently no approved therapies that reverse the effects of Gaucher type 3, though enzyme replacement therapy (ERT) may may slow the progression of Gaucher types 3b and 3c and alleviate some disease symptoms. For all three subtypes of Gaucher type 3, clinicians seek to target and reduce specific symptoms through interdisciplinary collaboration.

How we care for Gaucher disease

At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with Gaucher disease.