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A.D.A.M. Medical Encyclopedia [Internet]. Atlanta (GA): A.D.A.M.; 2013.

A.D.A.M. Medical Encyclopedia.

Gaucher disease

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Last reviewed: November 12, 2012.

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

Causes, incidence, and risk factors

Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to get this disease.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.

There are three main subtypes of Gaucher disease:

  • Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
  • Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
  • Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.

Symptoms

Symptoms vary, but may include:

Signs and tests

The doctor or nurse will examine you. This may show signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

The following tests may be done:

Treatment

Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.

Support Groups

For more information contact:

Expectations (prognosis)

How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher syndrome.

References

  1. McGovern MM, Desnick RJ. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 80.4.
  2. Genetic Disorders. In: Kumar V, Abbas AK, Fausto N, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 8th ed. St. Louis, Mo: WB Saunders; 2009: chap.5.

Review Date: 11/12/2012.

Reviewed by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.

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The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

What works?

  • Stem cell transplantation for treating Gaucher diseaseStem cell transplantation for treating Gaucher disease
    Gaucher disease is an inherited disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to storage of complex lipids in some types of blood cells. Due to these abnormal cells people with Gaucher disease will have pain, fatigue, anemia, jaundice and bone damage. Some forms of Gaucher disease may also cause neurological disorder. The treatment of Gaucher disease at present is mainly by enzyme replacement therapy which is expensive. In some severe cases stem cell transplantation is used to treat people with Gaucher disease. This is a high risk procedure some times leading to death of the individual. We have not found any trials to show the effectiveness and the risks of the procedure in people with Gaucher disease.
See all (2) ...

Figures

  • Bone marrow aspiration.
    Gaucher cell, photomicrograph.
    Gaucher cell, photomicrograph #2.
    Hepatosplenomegaly.

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