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

Pilot neonatal screening program for lysosomal storage disorders, using lamp-1.

E Ranierri1, R L Gerace, E M Ravenscroft

  • 1Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.

The Southeast Asian Journal of Tropical Medicine and Public Health
|June 13, 2001
PubMed
Summary
This summary is machine-generated.

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

Association of the circulating lipid panel, PCPro, with clinical outcomes in metastatic hormone-sensitive prostate cancer: post hoc analysis of the ENZAMET phase III randomised trial (ANZUP 1304).

Annals of oncology : official journal of the European Society for Medical Oncology·2025
Same author

Time restricted feeding alters the behavioural and physiological outcomes to repeated mild traumatic brain injury in male and female rats.

Experimental neurology·2024
Same author

Behavioral, metabolic, and lipidomic characterization of the 5xFADxTg30 mouse model of Alzheimer's disease.

iScience·2024
Same author

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.

Neuropathology and applied neurobiology·2019
Same author

Exceptional human longevity is associated with a specific plasma phenotype of ether lipids.

Redox biology·2019
Same author

Lipid droplet remodelling and reduced muscle ceramides following sprint interval and moderate-intensity continuous exercise training in obese males.

International journal of obesity (2005)·2017

Lysosome associated membrane protein (LAMP-1) shows elevated levels in most lysosomal storage disorder patients. A new LAMP-1 blood spot assay is effective for newborn screening of these genetic disorders.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal Medicine

Background:

  • Lysosomal storage disorders (LSDs) are a group of rare genetic diseases.
  • Elevated lysosome associated membrane protein (LAMP-1) is observed in plasma of LSD patients.
  • Newborn screening programs are crucial for early detection and intervention of genetic disorders.

Purpose of the Study:

  • To develop and evaluate a first-tier screening assay for lysosomal storage disorders (LSDs) using LAMP-1 levels in newborn blood spots.
  • To assess the effectiveness of LAMP-1 as a biomarker for neonatal screening of LSDs.
  • To establish a prospective pilot newborn screening program for LSDs.

Main Methods:

  • Development of a sandwich time-resolved fluorescent immunoassay for LAMP-1 detection.

Related Experiment Videos

  • Utilized chicken polyclonal and mouse monoclonal antibodies for the LAMP-1 assay.
  • Established stable and reproducible LAMP-1 blood-spot calibrators and quality control specimens.
  • Conducted a prospective pilot Guthrie neonatal screening program involving 11,183 infants.

    • Main Results:

    • The LAMP-1 assay demonstrated acceptable intra-assay (8.9% CV) and inter-assay (10% CV) variability.
    • Screened 11,183 infants, establishing population distribution data for LAMP-1 levels.
    • Median LAMP-1 level was 220 pg/l whole blood, with a 98th percentile of 483 µg/l whole blood.

    Conclusions:

    • The LAMP-1 immunoassay is a stable, reproducible, and effective first-tier screening tool for lysosomal storage disorders in newborns.
    • The developed assay and pilot program demonstrate the feasibility of using LAMP-1 for neonatal screening of LSDs.
    • Early identification of LSDs through newborn screening can facilitate timely management and improve patient outcomes.