mucopolysaccharidosis
Noun: A rare, inherited metabolic disorder. It is caused by the body's inability to properly break down long chains of sugar molecules called glycosaminoglycans (historically known as mucopolysaccharides). This leads to the harmful accumulation of these substances in the body's cells, blood, and connective tissues, which can damage organs and impair physical and sometimes mental development.
This is a medical term used specifically in clinical and genetic contexts. * The diagnosis confirmed the child had a form of mucopolysaccharidosis. * Researchers are studying new therapies for mucopolysaccharidosis.
The term is often abbreviated as MPS. Specific types are designated by Roman numerals (e.g., MPS I, MPS II) or eponymous names (e.g., Hurler syndrome, Hunter syndrome). * MPS I is one of the most severe forms of mucopolysaccharidosis. * The study focused on the natural history of mucopolysaccharidosis type VI.
- MPS: The standard abbreviation for mucopolysaccharidosis.
- Glycosaminoglycan (GAG): The modern biochemical term for the complex sugar chains that accumulate.
- Lysosomal storage disease: The broader category of disorders to which mucopolysaccharidosis belongs.
There are no direct common-language synonyms. In medical terminology, it is synonymous with the abbreviation MPS.
- MPS disorder: A clarifying phrase sometimes used.
- MPS disease: Another clarifying phrase equivalent to mucopolysaccharidosis.
- any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues