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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...
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,...
Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...

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[Lysosomal storage diseases].

B Manger1

  • 1Medizinische Klinik 3, Klinikum der Friedrich-Alexander-Universität Erlangen, Krankenhausstr 12, 91054 Erlangen. bernhard.manger@uk-erlangen.de

Zeitschrift Fur Rheumatologie
|June 10, 2010
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases (LSDs) are rare genetic disorders affecting lysosomes. Early recognition by rheumatologists is crucial for timely treatment and preventing irreversible organ damage.

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Area of Science:

  • Biochemistry and Genetics
  • Rare Diseases
  • Lysosomal Biology

Context:

  • Lysosomal storage diseases (LSDs) represent a diverse group of genetic disorders stemming from lysosomal enzyme dysfunction.
  • While individually rare, LSDs collectively affect over 1:8,000 live births, presenting diagnostic challenges, particularly in attenuated forms.
  • Musculoskeletal complaints are often the initial clinical manifestation, highlighting the rheumatologist's critical role in early disease detection.

Purpose:

  • To underscore the importance of rheumatologists' awareness of cardinal symptoms for early LSD identification.
  • To emphasize the necessity of timely diagnosis and initiation of enzyme replacement therapy (ERT).
  • To prevent irreversible organ damage and improve patient quality of life.

Summary:

  • LSDs result from impaired lysosomal enzyme activity, leading to a spectrum of clinical presentations.
  • Attenuated phenotypes pose diagnostic difficulties, yet musculoskeletal symptoms frequently prompt medical consultation.
  • Effective enzyme replacement therapies exist, making early diagnosis paramount for therapeutic success.

Impact:

  • Enhanced rheumatologist awareness can lead to earlier LSD diagnosis.
  • Timely intervention through ERT can mitigate disease progression and organ damage.
  • Improved diagnostic strategies for LSDs will enhance patient outcomes and quality of life.