Medical Genetics and Genomics

Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LALD) is caused by mutations in the LIPA gene. LALD results from a deficiency of an enzyme, lysosomal acid lipase that is necessary for cholesterol metabolism. Patients with LALD often have a buildup of LDL and other lipids which are abnormally stored in the cells. LALD is categorized based on the age at the onset of symptoms.

Infantile-onset LALD was previously known as Wolman disease. It is a severe form of the disorder and characterized by liver failure and malnutrition due to difficulty absorbing nutrients from food. LALD can begin in childhood or adulthood. In adults with LALD, the liver becomes enlarged which may laed to scarring and liver failure. Everyone has two copies of the LIPA gene, and to have LALD both copies of the gene must have mutations. This is called autosomal recessive inheritance.

Diagnosing LALD is often tricky. Patient symptoms often overlap with several common disorders. However, the diagnosis can be confirmed by testing the level of enzyme responsible for LALD and genetic testing of the LIPA gene itself on the molecular level.

Lysosomal Acid Lipase Deficiency Treatments

While there is no cure for LALD, treatment options are available. Enzyme Replacement Therapy (ERT) is a treatment is based on replacing the enzyme, lysosomal acid lipase that is missing or not working properly for people with LALD. Kanuma is the only FDA-approved treatment in the U.S for the treatment of LALD. The treatment is given through intravenous (IV) infusion every two weeks for children and adults. In infants, treatments are given every week. Life-long treatment is recommended.