Skip to main content
Search
Biomedical Basics

Lysosomal storage diseases

  • Created by Henry Stewart Talks
Published on March 31, 2026   4 min

A selection of talks on Cardiovascular & Metabolic

Please wait while the transcript is being prepared...
0:00
This session centers on lysosomal storage diseases, offering a structured look at the definition and underlying mechanisms of lysosomal storage diseases, focusing on the role of lysosomal enzymes and membrane proteins in disease development. We will discuss clinical manifestations using key examples like Gaucher, Tesax and Nieman PIC diseases, along with the importance of early recognition and diagnosis through biochemical and genetic testing. Advances in management, including enzyme replacement therapy, and emerging treatments such as gene therapy will be explored. Finally, we will highlight the ongoing need for early diagnosis and comprehensive supportive care to improve outcomes. Lysosomal storage diseases or LSDs, are over 70 inherited metabolic disorders caused by a malfunction in the cellular machinery that breaks down complex molecules. Central to these disorders are lysosomes, acidic organels responsible for recycling macromolecules. Mutations in genes encoding lysosomal enzymes or membrane proteins prevent degradation of certain substrates leading to their accumulation. This disrupts cellular homeostasis, especially in neurons impairing organ function. Most LSDs are autosomal recessive. Collectively, they affect about one in 5,000 live births globally. Central to LSDs is the deficiency of specific lysosomal enzymes, such as glucosa ibrsidase in Gaucher disease, or Beta hexosaminidase A in tasaxs disease. Sometimes the main issue is with

Quiz available with full talk access. Request Free Trial or Login.

Show
Hide

Lysosomal storage diseases

Embed in course/own notes