Gaucher disorder 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 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. Patients with this disease start to have symptoms during their childhood. Appropriate treatment may increase patients’ quality of life.
Pompe disorder 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 (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 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 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.