Gaucher Disease 

Most common Lysosomal disorder in the US

Gaucher disease is an inherited disorder that results from a deficit of an enzyme responsible for breaking down a fatty acid substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow fat-laden Gaucher cells to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction, and progressive organ involvement. 

Fabry Disease

One of three x-linked Lysosomal disorders

Fabry disease is a disorder inherited in an X-linked manner, which prevents the body from producing the enzyme responsible for breaking down fat. The deficiency of alpha-galactosidase (α-Gal A) results in accumulating a type of fat in the body cells, causing damage in kidneys, heart and in brain vasculature. Patients with this disease start to have symptoms later in their childhood.

Pompe Disease

First identified in 1932 and then assigned as an LD in 1960

Pompe disease is a genetic disorder caused by the accumulation of complex sugar called glycogen in organs and tissues. The lack of acid alpha-glucosidase, the enzyme responsible for breaking sugar cells into smaller molecules, results in muscle damages. Individuals with this degenerative muscle disorder may lose the ability to move arms and legs, and it may also limit their capacity to breathe independently.


Mucopolysaccharidoses are a group of metabolic disorders

Mucopolysaccharidoses (MPS) are rare diseases related to limited enzyme production - lysosomal alpha-L-iduronidase - which leads to the buildup of complex carbohydrates in parts of the body. Several health problems are caused by the accumulation of these sugar molecules (mucopolysaccharides or glycosaminoglycans) in the heart, skeleton, eyes, joints, respiratory system, ears, and skin. There are nine types of MPS disorders.

Niemann-Pick Disease

Niemann-Pick (Type A,B & C) is found world-wide with higher incidence in North Africa, French Canada and American Southwest

Niemann-Pick Types A and B (NPA and NPB), also called Acid Sphingomyelinase Deficiency (ASMD), are caused by the deficiency of a specific enzyme, acid sphingomyelinase (ASM). This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin.

Niemann-Pick Disease Type C

Niemann-Pick (Type C) is found world-wide with higher incidence in North Africa, French Canada and American Southwest

Niemann-Pick Types C (NPC) is a lysosomal lipid storage disease that prevents the body from carrying lipids inside of cells. NPC is caused by mutations in the NPC1 and NPC2 gene. Patients who inherit Niemann-Pick disease Type C may experience the first symptoms of the disease at any age. 

Additional Disorder Resources

Familial Cold Autoinflammatory Syndrome  Read More

Glycogen Storage Disorders   Read More 

Hereditary ATTR amyloidosis  Read More

Lysosomal Acid Lipase Deficiency   Read More


Mitochondrial Respiratory Chain Defects   Read More

Neurocutaneous Syndromes (Neurofibromatosis (NF) and Tuberous sclerosis complex (TSC))   Read More

Smith Lemli Opitz Syndrome   Read More