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Lingo to Learn About LSDs


Common medical terms used with LSDs

Lysosomal storage disorders (LSDs) are often described in a scientific way, which can be challenging to understand. To help you make sense of the scientific terminology, here are some key words associated with LSDs.


Chronic – LSDs are considered chronic because they are life-long conditions and currently can be managed but not cured.

Genetic – LSDs are considered genetic conditions because each of them is caused by an altered gene, or piece of DNA.

Enzymes – Enzymes are proteins, found in every cell and organ in the human body, that speed up chemical reactions, such as the breakdown of food. With LSDs, there is typically not enough of a certain enzyme, which causes substances like lipids or sugar to build up in the cell, leading to the signs and symptoms of the LSD.

Lysosomes – Lysosomes are sac-like structures within cells that contain  enzymes to break down certain substances. With LSDs, there is a buildup of these substances in the lysosomes, which leads to the signs and symptoms of the LSD.

Metabolic – LSDs are considered metabolic conditions because they involve the chemical process of breaking down substances like lipids or sugar in the cell.

Multisystemic – LSDs are considered multisystemic conditions because they affect multiple organ systems in the body.

Organs – Organs are responsible for specific functions in the body. Some examples are the heart, lungs, stomach, liver, kidneys, skin, and spleen. With LSDs, various organs can be affected.

Progressive – LSDs are considered progressive conditions because they can get worse over time.


If you’d like help picturing what’s happening at a cellular level, see our article, “Simplifying the Science”.

For further education about LSDs, your CareConnect team is just a phone call or email away. Call 1-800-745-4447, option 3, or email info@CareConnectPSS.com

CareConnect Personalized Support Services is an individualized support program sponsored by Sanofi for people with certain rare diseases and their families. Learn more

MAT-US-2409339-v1.0-11/2024. Last Updated: November 2024