Diseases & Conditions

Beta-Glucosidase Deficiency - Gaucher Disease

Overview, Causes, & Risk Factors

Gaucher disease is an inherited disorder in the metabolism of fats.

What is going on in the body?

In a person with Gaucher disease, a particular enzyme is missing. This enzyme is important in breaking down lipids, or fats, in the body. Because it is missing, a substance builds up in the body and causes damage to various organs. The most common form of the disease tends to be fairly mild. The spleen, the bones, and the blood cells are affected.

What are the causes and risks of the disease?

Gaucher disease is a genetic disorder. If both parents carry the gene for the disorder, their children are at risk.

Symptoms & Signs

What are the signs and symptoms of the disease?

Symptoms of Gaucher disease depend on the type. The infantile type is more severe than the juvenile or adult types. Symptoms include:

  • an abnormally large spleen, the organ in the upper right part of the abdomen that helps filter blood
  • low blood counts, which may cause easy bruising, bleeding, fatigue, or infections
  • an abnormally large liver
  • bone pain or bone fractures
  • brain involvement, which may cause seizures, communication\ \education, including reading, writing, and basic math\ \motor function\ \personal care, such as bathing, dressing, eating, and toileting\ \social skills\ \thinking skills, such as decision making, problem solving, and self-direction\ \working\ ',CAPTION,'Mental Retardation');" onmouseout="return nd();">mental retardation, and an unsteady style of walking

  • Diagnosis & Tests

    How is the disease diagnosed?

    Often, a bone marrow biopsy is the first step in diagnosing Gaucher disease. The biopsy involves taking a small piece of a bone, such as the hip, with a special needle. The piece of bone is examined under a microscope. If Gaucher disease is present, it will look abnormal.

    Cells taken from the person can then be tested for the abnormal gene associated with Gaucher disease. Early genetic testing of a fetus with amniocentesis can tell if an unborn child is affected.

    Prevention & Expectations

    What can be done to prevent the disease?

    Nothing can be done to prevent Gaucher disease in someone who has already been born. Genetic testing can determine whether someone has the gene that causes Gaucher disease. Genetic counseling may be useful for couples with a family history of Gaucher disease.

    What are the long-term effects of the disease?

    The severe form of Gaucher disease starts in early childhood. This form usually causes death from brain involvement. In the more common, milder form, the long-term effects are low blood counts, bone disease, and an enlarged spleen.

    What are the risks to others?

    Gaucher disease is not contagious. It is an autosomal recessive disorder. This means that a person must inherit the gene from both parents. Parents who have had a child with Gaucher disease are at risk for having other affected children.

    Treatment & Monitoring

    What are the treatments for the disease?

    Treatment for the severe forms of Gaucher disease is experimental. Affected people generally die at a very young age. In the milder forms, intravenous medication can be given once a week for life to lessen symptoms. Sometimes the symptoms may even clear up with treatment.

    What are the side effects of the treatments?

    The medication used to treat the disease may cause allergic reactions. These are usually not serious.

    What happens after treatment for the disease?

    Treatment of Gaucher disease is lifelong.

    How is the disease monitored?

    Physical exams and periodic blood tests may be used to monitor Gaucher disease. Any new or worsening symptoms should be reported to the healthcare provider.


    Author:Adam Brochert, MD
    Date Written:
    Editor:Duff, Ellen, BA
    Edit Date:04/30/00
    Reviewer:Ronald Jorgenson, DDS, PhD, FACMG
    Date Reviewed:04/23/01


    The National Gaucher Foundation

    National Foundation for Jewish Diseases

    Nelson Textbook of Pediatrics, 1996, Behrman et al.

    Cecil Textbook of Medicine, 1996, Bennett et al.