What is Gaucher disease?
Gaucher disease (pronounced Goh-shay) is a rare genetic condition where the body doesn’t make enough of the enzyme called glucocerebrosidase (GCase). GCase helps break down fatty substances in the body.
Gaucher disease is part of a group of conditions known as lysosomal storage disorders, where cells have difficulty clearing certain substances. There are three types of Gaucher disease – types 2 and 3 are the neurological forms, where the brain is affected.
Type 2 appears in early infancy and progresses quickly, while type 3 develops more slowly and may not become noticeable until childhood. Although Gaucher disease is lifelong, early diagnosis and specialist care can make a real difference.
What causes Gaucher disease?
Gaucher disease is caused by changes in the GBA gene, which provides the instructions for making the GCase enzyme. When these instructions are altered, the body makes too little GCase enzyme, or it doesn’t work as it should.
Without enough working GCase, fatty material can build up in certain organs, including the liver, spleen and bones. In types 2 and 3, this build-up can also affect the brain, which is why these forms have neurological symptoms.
What are the symptoms of Gaucher disease?
The symptoms of Gaucher disease happen because of a build up of fatty material. In types 2 and 3 symptoms can include:
- Developmental changes – delays in reaching milestones such as sitting, walking or speaking.
- Movement difficulties – including stiffness, tremors, unusual movements, or problems with balance and coordination.
- Eye movement problems – difficulty moving the eyes quickly or smoothly, which is a common feature in type 3.
- Seizures – these may occur in both types, with type 3 often showing more gradual changes.
- Feeding difficulties – in babies, this may include poor feeding or swallowing challenges.
- Breathing changes – especially in type 2, where breathing can be affected early on.
- Enlarged liver or spleen – which may cause a swollen tummy or discomfort.
- Bone pain or fractures – caused by changes within the bone marrow.
- Fatigue and low energy – due to anaemia or the body working harder to support affected organs.
Gaucher disease is part of a wider group of conditions called metabolic disorders. They affect the way the body processes fats, proteins and sugars.
Although some of these conditions are extremely rare, our charity is here to help bring people together, so you can find support whichever type you have.
