An inherited disorder that results from the buildup of a particular type of fat in the body’s cells. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front […]
An inherited disorder that affects many of the body’s organs and tissues. The signs and symptoms of this condition vary widely among affected individuals because there are several different types. Type 1 Gaucher disease is the most common form of this condition. Types 2 and 3 Gaucher disease are known as neuropathic forms of the […]
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase.
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. There are three types known as classic infantile-onset, non-classic infantile-onset, and late-onset.