Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.1.6.13 extracted from

  • Jones, S.A.; Almassy, Z.; Beck, M.; Burt, K.; Clarke, J.T.; Giugliani, R.; Hendriksz, C.; Kroepfl, T.; Lavery, L.; Lin, S.P.; Malm, G.; Ramaswami, U.; Tincheva, R.; Wraith, J.E.; Wraith, J.E.
    Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS) (2009), J. Inherit. Metab. Dis., 32, 534-543.
    View publication on PubMed
Search for more literature for 3.1.6.13

Application

Application Comment Organism
medicine cognitive involvement is indicative of more severe disease and lower life expectancy in patients with mucopolysaccharidosis type II caused by a deficiency of iduronate-2-sulfatase: median age at death is significantly lower in patients who died in or before 1985 compared with those who died after 1985. Data from patients who died after 1985 may serve as a control in analyses of the effects of enzyme replacement therapy with idursulfase on mortality in patients with mucopolysaccharidosis type II. Idursulfase does not cross the blood-brain barrier in therapeutic quantities Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
I2S
-
 Homo sapiens
iduronate-2-sulfatase
-
 Homo sapiens
idursulfase
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function a deficiency of iduronate-2-sulfatase causes mucopolysaccharidosis type II (Hunter syndrome), which is a progressive, multisystemic disease: patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life, whereas patients with the less severe form do not experience significant cognitive involvement and may survive until the fifth or sixth decade of life Homo sapiens