Article
Mucopolysaccharidosis III: Molecular basis and treatment.
Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2021
Spahiu Lidvana, Behluli Emir, Peterlin Borut, Nefic Hilada, Hadziselimovic Rifat, Liehr Thomas, Temaj Gazmend
Abstract excerpt
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction...
Topics
- Glycosaminoglycans
- Humans
- Mucopolysaccharidoses
- Mucopolysaccharidosis I
- Mucopolysaccharidosis III
- Mutation