Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Lysosomal diseases]

L Poénaru1

  • 1Université Paris V, CHU Cochin.

La Revue Du Praticien
|March 1, 1994
PubMed
Summary
This summary is machine-generated.

Lysosomal diseases are severe genetic disorders affecting children. While treatments are limited, prenatal diagnosis is available, and future therapies like gene therapy show promise.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

Gene therapy·2003
Same author

Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.

Clinical genetics·2002
Same author

Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.

Human molecular genetics·2002
Same author

From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system.

Annals of medicine·2001
Same author

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

Human mutation·2001
Same author

Gene therapy in lysosomal diseases.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2000

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Lysosomal diseases are a group of over 30 severe genetic enzymopathies.
  • These conditions typically affect children, often leading to fatal outcomes within the first few years of life.
  • They exhibit significant heterogeneity in clinical, biological, and molecular manifestations.

Purpose of the Study:

  • To review the current understanding of lysosomal diseases.
  • To highlight the genetic basis and molecular mechanisms involved.
  • To discuss diagnostic and therapeutic prospects.

Main Methods:

  • Literature review of genetic enzymopathies.
  • Analysis of molecular mechanisms and gene characterization.
  • Evaluation of diagnostic and therapeutic strategies.

Related Experiment Videos

Main Results:

  • Genes responsible for enzyme deficiencies are identified and cloned.
  • Causal mutations and molecular mechanisms are increasingly elucidated.
  • Prenatal diagnosis is feasible in the absence of effective treatments.

Conclusions:

  • Therapeutic options for lysosomal diseases are limited but evolving.
  • Substitutive therapy, bone marrow transplantation, and gene therapy offer future hope.
  • Continued research is crucial for improving patient outcomes.