gaucher's disease (Meaning)
Wordnet
gaucher's disease (n)
a rare chronic disorder of lipid metabolism of genetic origin
Synonyms & Antonyms of gaucher's disease
No Synonyms and anytonyms found
gaucher's disease Sentence Examples
- Gaucher's disease is a rare genetic disorder characterized by the accumulation of glucocerebrosides in cells.
- Individuals with Gaucher's disease have mutations in the GBA gene that prevent the production of functional glucocerebrosidase.
- The most common type of Gaucher's disease affects the spleen, liver, and bone marrow.
- Type 2 Gaucher's disease presents with neurological symptoms and can be fatal in infancy.
- Gaucher's disease is diagnosed through genetic testing and blood tests to measure glucocerebroside levels.
- Treatment options for Gaucher's disease include enzyme replacement therapy and substrate reduction therapy.
- Enzyme replacement therapy involves infusing patients with a synthetic form of glucocerebrosidase.
- Substrate reduction therapy aims to reduce the production of glucocerebrosides through the use of medications.
- Regular monitoring is essential to assess the effectiveness of treatment and prevent complications in Gaucher's disease.
- Research is ongoing to develop new and improved therapies for Gaucher's disease.
FAQs About the word gaucher's disease
a rare chronic disorder of lipid metabolism of genetic origin
No synonyms found.
No antonyms found.
Gaucher's disease is a rare genetic disorder characterized by the accumulation of glucocerebrosides in cells.
Individuals with Gaucher's disease have mutations in the GBA gene that prevent the production of functional glucocerebrosidase.
The most common type of Gaucher's disease affects the spleen, liver, and bone marrow.
Type 2 Gaucher's disease presents with neurological symptoms and can be fatal in infancy.
