Gaucher’s disease occurs when certain fatty substances build up in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. Specifically, Goucher’s disease is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells. It exists in three forms: type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected; type 2, which affects the nervous system and usually causes life-threatening medical problems beginning in infancy; and type 3, which also affects the nervous system but it tends to worsen more slowly than type 2). Signs and symptoms include hepatomegaly and splenomegaly, joint pain, neurological issues and osteoporosis.
This is a rare autosomal recessive lysosomal storage disease where the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other organs. Symptoms include feeding difficulties, vomiting, diarrhea, weight loss and abdominal distension.
A rare lysosomal disease resulting from deficiency in the enzyme alpha-glucosidase (GAA). Pompe may present in childhood (early-onset) or in adulthood (late-onset). Symptoms include diminished muscle weakness, hypertrophic cardiomyopathy, liver enlargement, respiratory difficulties and hearing loss.
People with MPS II are deficient in the enzyme iduronate-2-sulfatase that helps breakdown glycosaminoglycans (GAG). Build up of GAG can lead to a plethora of symptoms although the more severe cases are characterized by stunted growth, coarse facial features, stiff joints, and intellectual disability. MPS II affects mainly boys and symptoms often begin around age 2-4 years of age. The severe form often results in progressive cognitive impairment and limits the lifespan to about 12-15 years. In more mild forms, the condition may go undiagnosed for many years as it does not result in intellectual impairment or regression. Other symptoms include hearing loss, joint stiffness and thickening of heart valves.
Patients with MPS IV produce an insufficient amount of active N-acetylgalactosamine-6-sulfatase enzyme (GALNS) or have inactive GALNS. As a result, damaging levels of keratan sulfate and chondroitin-6-sulfate accumulate in the tissues and organs, causing pervasive skeletal and joint abnormalities, cardiopulmonary disease, and other clinical manifestations.
Caused by a deficiency in arylsulfatase B (ARSB). Signs and symptoms include neurological complications such as clouded corneas, deafness, pain from compressed nerves and thickening of dura matter. Signs and symptoms include abnormal heart development, large fingers, dwarfism, widely spaced teeth and compression of spinal cord.