Trusted Resources: Education
Scientific literature and patient education texts
A Guide to Understanding MPS II (Hunter Syndrome)
source: National MPS Society
year: 2021
summary/abstract:MPS II belongs to a group of inherited metabolic diseases called mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders (LSDs). MPS is a disorder in which at least one long-chain sugar carbohydrate called glycosaminoglycan, and formerly called mucopolysaccharide accumulates in the lysosome, an organelle within cells. There are seven distinct clinical types of MPS, some of which have several subtypes.
What Causes MPS II?
MPS II is caused by accumulation of two particular GAGs called dermatan sulfate (DS) and heparan sulfate (HS). DS is found in the skin and in the cornea and sclera of the eye, which helps to maintain corneal transparency and the shape of the eye, respectively. DS is also found in high quantities in blood vessel walls, heart valves, tendons, lungs, intestinal mucosa, and the umbilical cord. HS is ubiquitous and is found on the cell surface and in the extracellular matrix. HS is also one of the most complex GAGs in the body. When these GAGs are not degraded, they remain stored inside the cells in the body. The GAGs are not intrinsically toxic, but when they accumulate in large amounts, the effect of storing them in the body can lead to many physical problems. Babies may show little sign of the disease, but as more and more GAGs accumulate, symptoms start to appear as a result of progressive damage.
read more
Related Content
-
What Is Mucopolysaccharidosishttps://www.onempsvoice.com/wp-content/u...
-
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Pat...Mucopolysaccharidosis III (Sanfilippo sy...
-
Genome Editing in Mucopolysaccharidoses and MucolipidosesMucopolysaccharidoses (MPS) and mucolipi...
-
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and An Update of the “Gold Standard&#...Mucopolysaccharidoses (MPSs) are a group...
-
Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospectiv...Patients with mucopolysaccharidoses (MPS...
-
Oliver and Sam (MPSII)Oliver and Samuel are brothers and they ...
-
Glycosaminoglycans As Biomarkers for Mucopolysaccharidoses and Other DisordersGlycosaminoglycans (GAGs) are present in...