Gaucher Type 2

What is Gaucher type 2?

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. Gaucher types 2 and 3 are known to affect the brain and spinal cord (the central nervous system). 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 2 in children?

Gaucher Type 2 is caused by a mutation in the GBA gene that results in the reduced activity of an enzyme known as beta-glucocerebrosidase. This enzyme 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 up until they reach toxic levels within the body’s cells and tissues. This leads to Gaucher disease.

Gaucher type 2 is a genetic condition 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 2?

Signs and symptoms of Gaucher Type 2 generally present at birth or shortly after. Symptoms of Gaucher Type 2 include:

  • severe fluid accumulation before birth in the body’s tissues (hydrops fetalis)
  • enlargement of the liver and spleen (hepatosplenomegaly)
  • decreased red blood cells (anemia)
  • decreased blood platelets (thrombocytopenia)
  • seizures
  • abnormal eye movements
  • lung disease

Treatment for Gaucher type 2

There are currently no approved therapies that reverse the effects of Gaucher type 2. Current approaches to Gaucher type 2 involve targeted management of specific symptoms and 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.