MSD Manual

Please confirm that you are not located inside the Russian Federation

honeypot link

Overview of Lysosomal Storage Disorders

By

Matt Demczko

, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia

Medically Reviewed Dec 2021 | Modified Sep 2022
VIEW PROFESSIONAL VERSION

Lysosomes are tiny components within cells. Lysosomes contain enzymes that break down (metabolize) many types of molecules entering a cell. When the enzymes do not work correctly, the molecules build up, causing damage in many areas in the body.

Types of lysosomal storage disorders include

Mucopolysaccharidoses occur when the body lacks enzymes needed to break down and store complex sugar molecules (glycosaminoglycans).

Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses. The most common sphingolipidosis is

Others sphingolipidoses include

Lipidoses occur when the body lacks one of the enzymes that help the body break down and process fats Fats Carbohydrates, proteins, and fats are the main types of macronutrients in food (nutrients that are required daily in large quantities). They supply 90% of the dry weight of the diet and 100%... read more (lipids). This can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Lipidoses include

Treatment of lysosomal storage disorders varies depending on the substances that accumulate in the blood and tissues.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
VIEW PROFESSIONAL VERSION
quiz link

Test your knowledge

Take a Quiz! 
iOS ANDROID
iOS ANDROID
iOS ANDROID
TOP