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Related Concept Videos

Glycosaminoglycans01:23

Glycosaminoglycans

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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.
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...
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Lysosomal Hydrolases01:22

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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,...
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Proteoglycans01:05

Proteoglycans

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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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Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

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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...
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Oligosaccharide Assembly01:24

Oligosaccharide Assembly

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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...
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Glucose Transporters01:27

Glucose Transporters

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

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Mucopolysaccharidosis Type I.

Francyne Kubaski1,2,3,4, Fabiano de Oliveira Poswar1,2, Kristiane Michelin-Tirelli2,4

  • 1Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil.

Diagnostics (Basel, Switzerland)
|March 20, 2020
PubMed
Summary
This summary is machine-generated.

Mucopolysaccharidosis type I (MPS I) is a genetic disorder resulting from alpha-L-iduronidase deficiency. Early diagnosis via newborn screening and timely enzyme replacement therapy can significantly alter disease progression.

Keywords:
Hurler syndromeHurler–Scheie syndromeScheie syndromeenzyme replacement therapyglycosaminoglycanshematopoietic stem cell transplantationmucopolysaccharidosis type I

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type I (MPS I) arises from deficient alpha-L-iduronidase activity.
  • This deficiency causes accumulation of dermatan and heparan sulfate, leading to a spectrum of phenotypes.
  • Clinical manifestations range from severe Hurler syndrome to milder Scheie syndrome, with varying neurological involvement.

Purpose of the Study:

  • To review the clinical spectrum, diagnosis, and current/emerging treatments for MPS I.
  • To highlight the impact of genotype on phenotype.
  • To emphasize the importance of early detection and intervention.

Main Methods:

  • Diagnostic approaches include enzyme quantification, glycosaminoglycan analysis, and gene sequencing.
  • Review of current treatment guidelines and emerging therapeutic strategies.
  • Discussion of the role of newborn screening in early identification.

Main Results:

  • Hematopoietic stem cell transplantation is recommended for young Hurler patients.
  • Enzyme replacement therapy (ERT) is standard for attenuated forms and late-diagnosed severe cases.
  • Intrathecal ERT shows promise, and gene therapy, gene editing, and small molecule therapies are under development.

Conclusions:

  • Early diagnosis through newborn screening enables prompt treatment, potentially altering disease course.
  • A combination of established therapies (HSCT, ERT) and novel approaches offers hope for improved outcomes.
  • Supportive care is crucial for managing symptoms and enhancing quality of life.