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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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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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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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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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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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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
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Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Consuelo Cantú-Reyna1,2,3, Diana Laura Vazquez-Cantu2, Héctor Cruz-Camino1,2

  • 1Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico.

Children (Basel, Switzerland)
|May 16, 2023
PubMed
Summary

This case study highlights a Mexican patient with Mucopolysaccharidosis type I (MPS I), a rare genetic disorder. Combined therapy of enzyme replacement and stem cell transplantation proved beneficial for managing this condition.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease affecting glycosaminoglycans metabolism.
Keywords:
MexicoMucopolysaccharidosis Iiduronidase

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  • Caused by variants in the IDUA gene, MPS I presents a spectrum of clinical severity.
  • Affects approximately 1 in 100,000 newborns.