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Gaucher disease

(GOH-shay • disease)

General Condition Information

Other Names

  • Cerebroside lipidosis syndrome
  • Gaucher
  • Glucocerebrosidosis
  • Glucosyl cerebroside lipidosis
  • Glucosylceramidase deficiency
  • Kerasin lipoidosis
  • Kerasin thesaurismosis

Condition Type

Birth Prevalence

  • It is estimated that fewer than 80 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Decreased beta-glucocerebrosidase (GBA) enzyme activity

What is gaucher disease

Gaucher disease is an inherited (genetic) condition that prevents the body from processing glucocerebroside properly. Gaucher disease is named for one of the first doctors to describe the condition.

Glucocerebroside maintains the shape of cells and supports several other important cell processes. The enzyme beta-glucocerebrosidase (GBA) breaks down glucocerebroside. This process takes place in lysosomes, the recycling compartments in your cells.

Gaucher disease develops when the GBA enzyme is present at low levels or does not work correctly. This makes it harder for lysosomes to break down glucocerebroside. The build-up of glucocerebroside affects the function of cells in the body’s organs, especially in the liver, spleen, bone marrow, and nervous system.

There are three types of Gaucher disease that differ in signs and symptoms and age of onset.

  • Type 1 is the most common type. This type as also known as non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected.
  • Types 2 and 3 are very rare. They are known as neuronopathic Gaucher disease because these types do affect the brain and spinal cord.

There is a wide range of severity between and within types of Gaucher disease. It is not fully understood what causes the difference between types of Gaucher disease.

Without treatment, high levels of glucocerebroside can damage the liver, spleen, bones, brain, spinal cord, and heart. This damage leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

Children who receive early and ongoing treatment for Gaucher disease can live longer and have better growth.

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