Wolman Disease

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.