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 disorders.

J E Wraith1

  • 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK. ed@willink.demon.co.uk

Seminars in Neonatology : SN
|June 19, 2002
PubMed
Summary
This summary is machine-generated.

Lysosomal storage disorders (LSDs) often present in infancy but can manifest dramatically in newborns. Accurate diagnosis is crucial for potential future prenatal testing, as curative treatments remain limited.

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

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

JIMD reports·2016
Same author

Mucopolysaccharidosis type I.

Pediatric endocrinology reviews : PER·2014
Same author

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Molecular genetics and metabolism·2012
Same author

Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases.

BMJ (Clinical research ed.)·2012
Same author

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Journal of inherited metabolic disease·2012
Same author

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Neurology·2012
Same journal

Role of micro-organisms in necrotizing enterocolitis.

Seminars in neonatology : SN·2020
Same journal

The epidemiology and pathogenesis of necrotizing enterocolitis.

Seminars in neonatology : SN·2020
Same journal

Regionalized perinatal education.

Seminars in neonatology : SN·2005
Same journal

Regional quality assessment in perinatal care.

Seminars in neonatology : SN·2005
Same journal

Regionalized long-term follow-up.

Seminars in neonatology : SN·2005
Same journal

Regionalized neonatal emergency transport.

Seminars in neonatology : SN·2005
See all related articles

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal storage disorders (LSDs) are a group of genetic conditions.
  • While typically presenting in infancy or early childhood, some LSDs exhibit a neonatal phenotype.
  • Genetic heterogeneity contributes to the diverse clinical spectrum of LSDs.

Purpose of the Study:

  • To review the presentation and diagnosis of lysosomal storage disorders, particularly in the neonatal period.
  • To highlight the challenges in diagnosing and treating these rare genetic conditions.
  • To emphasize the importance of accurate diagnosis for genetic counseling and future reproductive options.

Main Methods:

  • Review of clinical presentations and diagnostic approaches for lysosomal storage disorders.

Related Experiment Videos

  • Discussion of radiological studies and peripheral blood/bone marrow smear findings.
  • Exploration of current and emerging therapeutic strategies.

    • Main Results:

    • Lysosomal storage disorders display significant genetic heterogeneity, leading to varied clinical presentations.
    • Neonatal presentation can be dramatic, sometimes associated with non-immune hydrops fetalis.
    • Diagnostic tools include imaging and examination of blood or bone marrow samples.

    Conclusions:

    • Accurate diagnosis of lysosomal storage disorders is essential, despite limited curative treatments.
    • Emerging therapies like enzyme replacement and substrate deprivation offer potential prognostic improvements.
    • Establishing a diagnosis enables prenatal testing for future pregnancies, aiding family planning.