What does gaucher's disease mean?
Definitions for gaucher's disease
gauch·er's dis·ease
This dictionary definitions page includes all the possible meanings, example usage and translations of the word gaucher's disease.
Princeton's WordNet
Gaucher's diseasenoun
a rare chronic disorder of lipid metabolism of genetic origin
ChatGPT
gaucher's disease
Gaucher's disease is a rare, inherited disorder that leads to a buildup of a certain type of fat, called glucocerebroside, in the body's cells. This buildup can cause a variety of symptoms, including enlargement of the liver and spleen, anemia, excessive bleeding and bruising, bone disease, and fatigue. The disease is caused by a deficiency of an enzyme known as glucocerebrosidase that breaks down this fat. It is categorized into three types based on the presence and progression of neurological symptoms.
Wikidata
Gaucher's disease
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages. Glucosylceramide can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye. Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.
Matched Categories
Numerology
Chaldean Numerology
The numerical value of gaucher's disease in Chaldean Numerology is: 5
Pythagorean Numerology
The numerical value of gaucher's disease in Pythagorean Numerology is: 9
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"gaucher's disease." Definitions.net. STANDS4 LLC, 2024. Web. 25 Apr. 2024. <https://www.definitions.net/definition/gaucher%27s+disease>.
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