Disorders

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.

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