Disorder Resources

Gaucher Disease

Gaucher disease is an inherited disorder that results from the deficiency of an enzyme responsible for breaking down a fatty substance within the organelles of cells, called lysosomes.

Fabry Disease

Fabry disease is a disorder inherited in an X-linked manner, which prevents the body from producing the enzyme responsible for breaking down fat.

Pompe Disease

Pompe disease is a Lysosomal disorder caused by the accumulation of a complex sugar called glycogen in muscles and other organs and tissues.

MPS

Mucopolysaccharidoses (MPS) are a group of Lysosomal disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs).

Niemann-Pick Disease

Niemann-Pick disease types A and B are part of a group of lysosomal storage disorders that affect the body's ability to metabolize lipids (fats) properly.


Niemann-Pick Disease Type C

Niemann-Pick Disease Type C (NPC) is a rare Lysosomal disorder characterized by the accumulation of cholesterol and other lipids in the lysosomes of various tissues, leading to progressive neurological deterioration.

Connect with us

3702 Pender Drive, Suite 170,
Fairfax VA 22030

  • Phone 1 703-261-6220

  • Fax 1 703 991-6592

  • info@LDRTC.org

Search