Gaucher"s disease - significado y definición. Qué es Gaucher"s disease
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Qué (quién) es Gaucher"s disease - definición

HUMAN DISEASE CHARACTERIZED BY DEFICIENCY OF THE ENZYME GLUCOCEREBROSIDASE WHICH RESULTS IN THE ACCUMULATION OF HARMFUL QUANTITIES OF THE GLYCOLIPID GLUCOCEREBROSIDE THROUGHOUT THE BODY
Gaucher disease; Gauchers disease; Gauchers Disease; Gaucher Disease; Gaucher disease type 1; Gaucher disease type 2; Gaucher disease type 3; Acid beta-glucosidase deficiency; Cerebroside Lipidosis syndrome; Acute cerebral Gaucher's disease; Anemia, splenic, familial; Gaucher's; Gaucher's Disease; Gaucher’s disease; Pseudo-Gaucher disease; Gaucher syndrome; Erlenmeyer flask deformity of the femur; N370S in the United States; Prevalence of N370S in the United States; Epidemiology of N370S in the United States; National Gaucher Foundation; National Gaucher Foundation (United States)

Eric Gaucher         
AMERICAN BIOLOGIST
Gaucher, Eric
Eric Alexander Gaucher (born January 1972) is an American biologist best known for his work in a field he termed Evolutionary Synthetic Biology.
Gaucher's disease         
Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.
Canton of La Ferté-Gaucher         
CANTON OF FRANCE (UNTIL MARCH 2015)
Canton of La Ferte-Gaucher
The canton of La Ferté-Gaucher is a French former administrative division, located in the arrondissement of Provins, in the Seine-et-Marne département (Île-de-France région). It was disbanded following the French canton reorganisation which came into effect in March 2015.

Wikipedia

Gaucher's disease

Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.

The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450.

Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.

The disease is named after the French physician Philippe Gaucher, who originally described it in 1882.