黏多醣貯積症
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.
Article · 中文
黏多醣貯積症（英語：Mucopolysaccharidoses，又稱黏多醣症，簡稱：MPS），是一種先天性遺傳病。成因為體內遺傳基因細胞缺乏了能將黏多醣分解的酶，引致體內各個細胞中的糖胺聚糖（glycosaminoglycan，一種長鏈分子）過量堆積，影響細胞的正常功能，進而損害各個器官。
Abstract from DBpedia / Wikipedia · CC BY-SA