Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
Hunter syndrome
Mucopolysaccharidosis type II
X-linked trait
animal model
diagnosis
glycosaminoglycans
lysosomal storage disorders
pathogenesis
therapy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
13 Feb 2020
13 Feb 2020
Historique:
received:
17
01
2020
revised:
10
02
2020
accepted:
11
02
2020
entrez:
20
2
2020
pubmed:
20
2
2020
medline:
20
11
2020
Statut:
epublish
Résumé
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndrome, has been clearly distinguished as a specific disease since 1978, when the distinct genetic causes of the two disorders were finally identified. MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it is the only X-linked-inherited mucopolysaccharidosis. The complex disease is due to a deficit of the lysosomal hydrolase iduronate 2-sulphatase, which is a crucial enzyme in the stepwise degradation of heparan and dermatan sulphate. This contributes to a heavy clinical phenotype involving most organ-systems, including the brain, in at least two-thirds of cases. In this review, we will summarize the history of the disease during this century through clinical and laboratory evaluations that allowed its definition, its correct diagnosis, a partial comprehension of its pathogenesis, and the proposition of therapeutic protocols. We will also highlight the main open issues related to the possible inclusion of MPS II in newborn screenings, the comprehension of brain pathogenesis, and treatment of the neurological compartment.
Identifiants
pubmed: 32070051
pii: ijms21041258
doi: 10.3390/ijms21041258
pmc: PMC7072947
pii:
doi:
Substances chimiques
Iduronate Sulfatase
EC 3.1.6.13
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondazione Cassa di Risparmio di Padova e Rovigo
ID : Bando Ricerca Pediatrica 17_06
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.
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