Ontology highlight
ABSTRACT:
SUBMITTER: Spahiu L
PROVIDER: S-EPMC10228206 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Spahiu Lidvana L Behluli Emir E Peterlin Borut B Nefic Hilada H Hadziselimovic Rifat R Liehr Thomas T Temaj Gazmend G
Pediatric endocrinology, diabetes, and metabolism 20210101 3
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 and malfunction of several organs. However, the exact molecular mechanism how protein ...[more]