Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

  • Donate Today

    Donate Today

    Support families, advance research, and give to NTSAD.

  • Newly Diagnosed?

    Newly Diagnosed?

    Support and mentorship is here as you cope with a diagnosis of Canavan, GM1, Sandhoff or Tay-Sachs.

  • Clinical Trials

    Clinical Trials

    Learn more about the clinical trials in development that we hope lead to effective therapies.

  • NTSAD's New Website

    NTSAD's New Website

    Check out a sneak peek into NTSAD's new website.

  • Annual Family Conference 2023

    Annual Family Conference 2023

    Join the NTSAD Community from June 1-4, 2023 in Reston, Virginia.
  • We Care for Rare

    We Care for Rare

    Meet Rare Families. Read More
  • Be an advocate!

    Be an advocate!

    Your voice is important and can have a profound impact on legislation that affects our small but mighty rare disease community.

  • › ‹
    • 1
    • 2
    • 3
    • 4
    • 5
    • 6
    • 7

Latest News

  • 1
  • 2
  • 3
  • 4
› ‹

Lysosomes are the cell’s recycling center. They contain digestive enzymes; responsible for breaking down debris in the cell into reusable parts.

 

 

The Cell. Image from: https://awbionotes.wordpress.com/tag/animal-cell/ 

 

A lysosomal storage disorder occurs when one of these enzymes is not functioning correctly. When the enzyme does not function correctly, there is a build up of undigested debris (substrate) in the lysosome. This substrate is usually a fatty substance called a sphingolipid. This build up eventually leads to cell degeneration. This then results in the accumulation of substrate in various tissues and organs of the body, causing these organs to function less efficiently, resulting in progressive deterioration in physical and/or mental state, and eventually death.

 

A visual representation:

a) In most individuals the substrate (water) can be degraded efficiently by adequate enzyme volume (hole in sink).

b) In affected individuals the amount of enzyme is insufficient to efficiently degrade the substrate and it accumulates. It is this accumulation that causes the disease.

 

 

Login