niemann-pick disease
Noun: A rare, inherited metabolic disorder characterized by the harmful accumulation of lipids (fats), particularly sphingomyelin, within cells throughout the body, especially in the spleen, liver, brain, and bone marrow. It is caused by genetic mutations that lead to deficiencies in specific enzymes needed to break down these lipids.
This term is used specifically in medical and scientific contexts to name this particular group of lysosomal storage diseases. - The diagnosis of Niemann-Pick disease was confirmed through genetic testing. - Research into therapies for Niemann-Pick disease is ongoing.
- Types: The term broadly encompasses several types (e.g., Type A, B, C), which vary in severity, symptoms, and the specific genetic cause.
- Niemann-Pick disease type C affects cholesterol transport within cells.
- Sphingomyelinosis: An alternative, more technical name for Niemann-Pick disease types A and B, referring to the specific lipid that accumulates.
- Lysosomal storage disease: The broader category of disorders to which Niemann-Pick disease belongs.
- Lipid storage disorder (This is a broader, more general synonym.)
- Sphingomyelin lipidosis (A technical synonym.)
This term refers exclusively to the specific genetic condition. It is not used figuratively. The hyphenated form "Niemann-Pick" is standard, named after the physicians Albert Niemann and Ludwig Pick.
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a disorder of lipid metabolism that is inherited as an autosomal recessive trait
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