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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,...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Lysosomes01:31

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
Lysosomes01:31

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
The Functions of the Skeletal System01:22

The Functions of the Skeletal System

The most apparent functions of the skeletal system are support, protection, and movement. However, bone tissue also performs several other critical metabolic functions. For one, the bone matrix acts as a reservoir for a number of minerals important to the functioning of the body, especially calcium and phosphorus. These minerals, present in the bone tissue, can be released back into the bloodstream when required. Calcium ions, for example, are essential for muscle contractions and controlling...

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Skeletal abnormalities in lysosomal storage diseases.

David A Stevenson1, Robert D Steiner

  • 1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA. david.stevenson@hsc.utah.edu

Pediatric Endocrinology Reviews : PER
|July 18, 2013
PubMed
Summary

Lysosomal storage diseases (LSDs) often cause skeletal abnormalities, diagnosed via dysostosis multiplex. While enzyme replacement therapy helps some symptoms, its effect on bone issues requires further research for better treatments.

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Area of Science:

  • Medical Genetics
  • Skeletal Radiology
  • Biochemistry

Background:

  • Lysosomal storage diseases (LSDs) frequently present with skeletal abnormalities, leading to substantial patient morbidity.
  • Dysostosis multiplex, a pattern of skeletal findings on radiographs, aids in diagnosing various LSDs, especially mucopolysaccharidoses (MPS).

Purpose of the Study:

  • To review the clinical and radiographic skeletal manifestations of LSDs.
  • To highlight LSDs with significant skeletal involvement, including MPS disorders, mucolipidosis types II and III, and Gaucher disease.

Main Methods:

  • Literature review focusing on clinical and radiographic findings.
  • Analysis of skeletal manifestations in specific LSDs.

Main Results:

  • Skeletal abnormalities are a common and significant feature of many LSDs.
  • Radiographic findings of dysostosis multiplex are crucial for diagnosing LSDs like MPS.
  • Enzyme replacement therapy (ERT) shows variable efficacy for skeletal issues.

Conclusions:

  • Understanding the pathophysiology of LSD-related skeletal abnormalities is key to developing targeted bone therapies.
  • Further research is needed to improve therapeutic strategies for skeletal manifestations in LSDs.