What is Gaucher Disease?

Gaucher disorder is an inherited disorder that results from a deficit of an enzyme responsible for breaking down a fatty acid substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow fat-laden Gaucher cells to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction and progressive organ involvement. 

How to diagnose?
A simple blood test showing a low level of enzyme activity followed by DNA sequencing will help physicians diagnose the disorder.

What is the treatment?
Enzyme replacement and substrate reduction therapies are the most common treatments. More treatment options are in the pipeline, including gene therapy. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.

Gaucher Disease

Type 1

The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.

Symptoms include: Spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds.

Type 2 

It affects newborns and infants, and babies present with rapid neurological complications.

Symptoms include: Poor growth and development, crossing of the eyes, seizures, spasticity, jerking movements, low ability to suck and swallow, breath holding and cyanotic spells, enlarged liver and spleen.

Type 3

The severity of the organ involvement is more pronounced than Type 1 and 2, and children usually develop progressive neurological involvement.

Symptoms include: Significant enlargement of the liver and spleen in early childhood, failure to gain weight and growth, low platelets and anemia, slowing of the horizontal eye movements, cognitive problems, poor coordination, respiratory problems. The bone disease is severe and progressive and may involve progressive spine deformities. If untreated, severe complications ensue due to bone, hematological and liver problems.

      Gaucher Disease (Type I, II,II)    Read More

30% of Rare Disorders




Bone problems

Liver and spleen issues

*See details for each type