Glucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA).
Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease.
It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the child to develop the disease. A parent who carries an abnormal copy of the gene but doesn't have the disease is called a silent carrier.
The lack of the GBA causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.
There are three main subtypes of Gaucher disease:
Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include:
The health care provider will perform a physical exam and ask about the symptoms.
The following tests may be done:
Gaucher disease can't be cured. But treatments can help control and may improve symptoms.
Medicines may be given to:
Other treatments include:
These groups can provide more information on Gaucher disease:
How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy.
Complications of Gaucher disease may include:
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.
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.
Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 197.
Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.BACK TO TOP
Review Date: 10/13/2022
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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