Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body.
- Wolman disease belongs to a group of diseases known as Lysosomal Storage Disorders (LSDs).
- Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse.
- Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates.
- When these enzymes are defective or missing altogether because of genetic mutations, LSDs develop as a result of abnormal build-up of material in the body's cells.
- Wolman disease is the early onset form of LAL Deficiency.
- This form of the disease typically develops during the first few weeks or month of life.
- Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood.
Famous quotes containing the word disease:
“It is said, proverbially, that happy is the doctor who is called in when the disease is on its way out.”
—François Rabelais (14941553)