Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.
Glucocerebrosidase deficiency; Glucosylceramidase deficiency
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 vary, but may include:
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Enlarged spleen (splenomegaly)
- Enlarged liver (hepatomegaly)
- Heart valve problems
- Lung disease
- Severe swelling (edema) at birth
- Skin changes
Exams 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:
- Blood test to look for enzyme activity
- Bone marrow aspiration
- Biopsy of the spleen
- X-ray of the skeleton
- Genetic testing
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
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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.
- Bone problems
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.
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.
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
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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