Mukopolisakkaridozlar (MPS)
Also known as mucopolysaccharidoses, MPS, Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints.
Key facts
- Medical condition (new).name
- Mucopolysaccharidosis
- Medical condition (new).image
- File:16 year old with rapidly progressing Maroteaux-Lamy syndrome (MPS-VI).jpg
- Medical condition (new).caption
- A 16-year-old male with rapidly progressing MPS-VI, showing characteristic facial features and skeletal abnormalities
via Wikipedia infobox
Research
9,168 papers- Mucopolysaccharidosis III: Molecular basis and treatment.Pediatric endocrinology, diabetes, and metabolism · 2021
- [Mucopolysaccharidosis: clinical features, diagnosis and management].Revista chilena de pediatria · 2016
- Mucopolysaccharidosis: A broad review.Indian journal of ophthalmology · 2022
- [Mucopolysaccharidosis: A review].La Revue de medecine interne · 2020
- Mucopolysaccharidosis.