Gaucher Disease: Causes and Symptoms

What is Gaucher disease?

Gaucher disease is a genetic condition in which the body does not create enough of the beta-glucocerebrosidase enzyme. This enzyme’s job is to break down glucocerebroside (a substance found in the membrane of a cell). In people with Gaucher disease, there is too little or no beta-glucocerebrosidase enzyme. This leads to a build-up of glucocerebroside in the body.

What are the different types of Gaucher disease and what are the symptoms?

There are 3 different types of Gaucher disease:

• Type 1 is the most common form. The severity of symptoms ranges from mild to severe. The age at which symptoms appear can vary from childhood to adulthood. Symptoms include:
  • Bone disease
  • Bone pain
  • Osteopenia (loss of calcium in the bones that can lead to weak or brittle bones)
  • Osteoporosis (a condition in which the body loses or does not make enough bone material, leading to weak or brittle bones)
  • Bone death (a condition in which bone tissue dies because of poor blood supply)
  • Large organs
    • Enlarged liver and spleen (a fist-sized organ next to the stomach that helps filter blood)
  • Blood differences
    • Easy bruising
    • Decreased platelets (low number of platelets, or cells that help blood to clot, in the blood)
    • Anemia (when the body does not have enough healthy red blood cells to carry oxygen to the body’s tissues and organs)
    • Low blood counts
• Types 2 and 3
  • Overall body inflammation
  • Types 2 and 3 affect the central nervous system. Symptoms usually appear during infancy or childhood. Symptoms usually appear as developmental delays or a neurological (nerve or brain) disease that looks like seizures (unusually electrical activity in the brain).

What causes Gaucher disease?

Gaucher disease is caused by changes in the GBA gene. The genes in our bodies are the instructions that tell our bodies how to build and develop. The job of the GBA gene is to create the beta-glucocerebrosidase enzyme. People with variants (changes) or misspellings in the GBA gene create too little or no beta-glucocerebrosidase.

Gaucher disease is inherited in an autosomal recessive pattern (when a child inherits a mutated gene from each parent who carries the gene for the condition but does not have the condition itself). Our genes come in pairs. We get one copy from our biological mother and the other from our biological father. In Gaucher disease, both copies of the GBA gene have a misspelling or mutation (change) that causes it to create less or no enzyme.

Rev. 3/2022. Reviewed by the MGfC Family Advisory Council. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.