Related Experiment Video
Updated: Aug 6, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Prevalence of lysosomal storage disorders
P J Meikle1, J J Hopwood, A E Clague
1Department of Chemical Pathology, Women's and Children's Hospital, Adelaide, Australia. p.meikle@medicine.adelaide.edu.au
Lysosomal storage disorders are rare individually but common as a group, affecting 1 in 7700 Australian births. This study defines their collective prevalence, highlighting a significant public health issue.
Area of Science:
- Medical Genetics
- Rare Diseases
- Epidemiology
Background:
- Lysosomal storage disorders (LSDs) encompass over 41 distinct inherited diseases.
- While individually rare, their collective impact on healthcare systems is substantial but poorly defined.
- Previous comprehensive studies on the group prevalence of LSDs are lacking.
Purpose of the Study:
- To ascertain the individual and group prevalence of lysosomal storage disorders in Australia.
- To establish a baseline understanding of the public health burden posed by LSDs.
Main Methods:
- Retrospective case study analysis.
- Data collected from Australia between 1980 and 1996.
- Enzymatic diagnosis served as the primary outcome measure for identifying LSD cases.
Main Results:
- A total of 545 individuals with 27 different LSDs were diagnosed.
- Prevalence varied significantly, from Gaucher disease (1:57,000) to sialidosis (1:4.2 million).
- The combined prevalence of all LSDs was 1:7700 live births, indicating they are relatively common as a group.
Conclusions:
- Lysosomal storage disorders, though individually rare, represent a significant collective health concern in Australia.
- The findings underscore the importance of recognizing LSDs as a group to address their overall impact.
More Related Videos
10:39Improved Lipofuscin Models and Quantification of Outer Segment Phagocytosis Capacity in Highly Polarized Human Retinal Pigment Epithelial Cultures
Published on: April 14, 2023
05:40Lysosomal Profiling With LysoTracker For Quantitative Assessment of Cellular Senescence In Human Fibroblasts
Published on: July 17, 2026
Related Concept Videos
Long-term Depression
Delivery Pathways to the Lysosome
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
Lysosomal Hydrolases
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Inborn Errors of Metabolism
Diabetic Retinopathy