Related Experiment Video

Updated: Apr 11, 2026

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins
09:24

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins

Published on: June 14, 2016

27.5K

A rare case of mucopolysaccharidosis: hunter syndrome

Jayaprasad Anekar1, Deepa Narayanan C2, Raj A C3

  • 1Professor and Head, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .

Journal of Clinical and Diagnostic Research : JCDR
|May 30, 2015
PubMed

Insights

Hunter syndrome (MPS II) is a rare X-linked disorder caused by enzyme deficiency, leading to GAG accumulation. A case highlights typical features without corneal clouding, suggesting clinical exams can aid diagnosis.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hunter syndrome (mucopolysaccharidosis type II) is a rare X-linked inherited metabolic disorder.
  • It results from a deficiency in the lysosomal enzyme iduronate-2-sulfatase.
  • The condition affects approximately 1 in 100,000 births, leading to progressive multisystem pathologies due to glycosaminoglycan accumulation.

Observation:

  • A case study of a 13-year-old boy with Hunter syndrome is presented.
  • The patient exhibited characteristic facial, skeletal, and dental features.
  • Notably, corneal clouding, often associated with MPS II, was absent in this case.

Findings:

  • The case demonstrates that typical clinical manifestations of Hunter syndrome can occur without corneal involvement.
  • Systematic clinical and radiological examinations are crucial for diagnosing this complex disorder.
  • The absence of corneal clouding in a patient with other hallmark features warrants further investigation into diagnostic criteria.

Implications:

  • This case suggests that diagnostic approaches for Hunter syndrome may need to consider variations in clinical presentation.
  • Enhanced clinical and radiological assessments can potentially lead to earlier diagnosis, even in atypical cases.
  • Further research into the spectrum of Hunter syndrome presentations is warranted to refine diagnostic strategies.
Keywords:
Coarse facial featuresDelayed eruptionMacroglossia

More Related Videos

Author Spotlight: Dendritic Cells Maturation Using Sialidases-Based Enzymatic Treatment of the Cell Surface13:36

Author Spotlight: Dendritic Cells Maturation Using Sialidases-Based Enzymatic Treatment of the Cell Surface

Published on: October 20, 2023

4.4K
Antibody Binding Specificity for Kappa (Vκ) Light Chain-containing Human (IgM) Antibodies: Polysialic Acid (PSA) Attached to NCAM as a Case Study11:10

Antibody Binding Specificity for Kappa (Vκ) Light Chain-containing Human (IgM) Antibodies: Polysialic Acid (PSA) Attached to NCAM as a Case Study

Published on: June 29, 2016

14.6K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.8K
Glycosaminoglycans01:23

Glycosaminoglycans

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.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
8.0K
Proteoglycans01:05

Proteoglycans

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,...
5.3K
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
3.9K
Glucose Transporters01:27

Glucose Transporters

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.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.4K
Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
3.4K