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Summary Article: Gaucher Disease
from Encyclopedia of Human Genetics and Disease


Occurs in 1 in 50,000 to 100,000 in the general population; Type I frequent in the Ashkenazi Jewish population, affecting about 1 in 500 to 1,000 people; other forms not frequent in the Jewish population

Other Names

Cerbroside lipidosis syndrome; Gaucher's disease; Gaucher splenomegaly; Gaucher syndrome; GD; glucocerbrosidosis; glucocerebrosidase deficiency; glucosylceramidase deficiency; glucosylceramide beta-glucosidase deficiency; glucosylceramide lipidosis; glucosyl cerebroside lipidosis; kerasin lipoidosis; kerasin thesaurismosis; lipoid histiocytosis

Because of their isolation and intermarriage, many disorders are prevalent in the Ashkenazi Jewish population. It is believed that when the Jews spread from the area of Israel to eastern Europe and other areas, the gene was present in the founding group. Years of intermarriage presented the recessive gene as endemic in the population. In 1882, Phillippe Gaucher, a French physician, first described the disease that was so prevalent in the Jewish population and lent his name to the disorder. However, it was not until 1965 that the biochemical basis for the disorder was found.

What Is Gaucher Disease?

Gaucher disease is a metabolic disorder that occurs when a fatty substance called glucocerebroside accumulates in the organs, causing serious damage to many body parts. Gaucher is one of several diseases that affect lipid or fat storage. The following three types occur:

  • Type 1: Type 1 Gaucher disease is the most common and may begin early in life or in adulthood. Also the symptoms may range from mild to severe and include enlargement of the liver or spleen, a low number of red blood cells, skeletal disorders, and sometimes lung and kidney impairment. People with this type may bruise easily and experience fatigue because of anemia. Type one does not affect the brain and spinal cord. This type is prevalence in people of Ashkenazi Jewish descent.

  • Type 2: Type 2 Gaucher is a very serious form. Evidence of liver and spleen enlargement is evident at about three months. This type is known as neuropathic because the brain and central nervous system are affected. This brain damage is progressive and the child usually dies before the age of two.

  • Type 3: Type 3 Gaucher disease has mild to severe enlargement of liver and spleen depending on the individual. Brain damage may occur in the form of seizures and become progressively worse over the years. Type 3 also has eye movement disorders, skeletal deficits, and blood disorders.

  • Perinatal lethal disease: This most severe type of disorder starts before birth with extensive swelling, distinctive facial features, scaly skin, and serious neurological problems. These children live only a few days after birth.

  • Cardiovascular Gaucher disease: This type is rare and primarily affects the heart valves, causing them to calcify.

All of the disorders have the same thing in common: a deficiency of the enzyme that breaks down or recycles glucocerebroside.

What Is the Genetic Cause of Gaucher Disease?

Changes in the GBA gene, officially known as the “glucosidase, beta, acid” gene, cause Gaucher disease. Normally, GBA instructs for the making of the enzyme beta-glucocerebrosidase, an enzyme active in the lysosomes. The lysosomes are small organelles within the cell that act as the garbage disposal or housekeeper of the cell. In the lysosome, enzymes act to break down old cell parts or package them for recycling. Beta-glucocerebrosidase is a housekeeping enzyme that breaks down the huge molecule called glucocerebroside into glucose or sugar and a simpler fat molecule called ceramide.

More than 200 mutations in GBA are related to Gaucher disease. A change in a single building block or amino acid disrupts the structure of the enzyme beta-glucocerbrosidase and keeps it from working normally. Thus, the molecule glucocerebroside and other substances build up in the white blood cells in the spleen, liver, bone marrow, and other organs. The accumulation of these substances shuts down the cells in the organs and tissues down and keeps them from working, causing the symptoms of Gaucher disease.

GBA is also associated with Parkinson disease and a brain disorder called dementia with Lewy bodies. GBA is inherited in a recessive pattern and is located on the long arm (q) of chromosome 1 at position 21.

What Is the Treatment for Gaucher Disease?

Many genetic disorders do not have treatments; however, because of its prevalence in the Jewish population, several studies have been successful in finding a treatment for types 1 and 3. In 1995, the U.S. Food and Drug Administration approved an effective treatment called Ceredase. Later, in 2001, an improved drug, Cerezyme, was found to be more effective. This drug is a highly effective enzyme replacement that reduces the size of the liver and spleen and reverses other symptoms of the disorder. However, no treatment exists for the brain damage in types 2 and 3.

Further Reading
  • Gaucher Disease.” 2010. Genetics Home Reference. National Library of Medicine (U.S.). Accessed 5/18/12.
  • National Gaucher Foundation. 2010. Accessed 5/18/12.
  • NINDS Gaucher Disease Information Page.” 2010. National Institute of Neurological Diseases and Stroke (U.S.). Accessed 5/18/12.
  • Copyright 2013 by Evelyn B. Kelly

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