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Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Glaucoma in mucopolysaccharidoses.

Weijing Kong1, Jing Zhang1, Cheng Lu2

  • 1Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China.

Orphanet Journal of Rare Diseases
|July 16, 2021
PubMed
Summary
This summary is machine-generated.

Mucopolysaccharidoses (MPS) patients treated with new therapies are living longer, but may develop glaucoma. This eye condition, though not fatal, significantly impacts their quality of life and warrants further research.

Keywords:
GlaucomaGlycosaminoglycansLysosomal storage disordersMucopolysaccharidosesMucopolysaccharidosisRare disease

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Area of Science:

  • Ophthalmology
  • Genetics
  • Lysosomal Storage Disorders

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic lysosomal storage disorders caused by enzyme deficiencies in glycosaminoglycan (GAG) degradation.
  • Historically, research focused on fatal manifestations due to high childhood mortality.
  • Advancements in MPS therapies have increased patient lifespan and quality of life.

Purpose of the Study:

  • To investigate the prevalence and impact of glaucoma in patients with Mucopolysaccharidoses.
  • To highlight the importance of addressing glaucoma for improving the quality of life in MPS patients.

Main Methods:

  • Review of existing literature and prevalence data on glaucoma in Mucopolysaccharidoses patients.
  • Analysis of the pathophysiological mechanisms linking GAG accumulation to ocular changes and increased intraocular pressure.

Main Results:

  • Abnormal GAG accumulation in the eye can lead to increased intraocular pressure and optic nerve damage, potentially causing glaucoma.
  • The prevalence of glaucoma in MPS patients ranges from 2.1% to 12.5%.
  • Glaucoma, while not fatal, is a significant cause of irreversible blindness and affects quality of life.

Conclusions:

  • Glaucoma is an underreported but significant complication in patients with Mucopolysaccharidoses.
  • Increased awareness and further research into glaucoma management in MPS patients are crucial for enhancing patient well-being.
  • Addressing glaucoma can improve the overall quality of life for individuals living with MPS.