What is Wolman disease?

Wolman disease is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) certain fats (lipids) in the body.

What does the LIPA gene do?

Normal Function The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials the cell no longer needs. Lysosomal acid lipase breaks down fats (lipids) such as triglycerides and cholesteryl esters.

Why excess lipids accumulate in individuals with Wolman disease?

Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands.

What is 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.

Is Wolman disease curable?

There is currently no cure or specific treatment for Wolman’s disease. Death usually occurs by the age of six months.

Is Wolman’s disease fatal?

Untreated, Wilson’s disease can be fatal. Serious complications include: Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver, making it more difficult for the liver to function.

How many people suffer from acid lipase disease?

Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to 300,000 individuals, varying by population. The later-onset form is more common than the early-onset form.

What is a LIPA protein?

LIPA (Lipase A, Lysosomal Acid Type) is a Protein Coding gene. Diseases associated with LIPA include Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease. Among its related pathways are Lipoprotein metabolism and Metabolism. An important paralog of this gene is LIPM.

How does lysosomal acid lipase work?

The lysosomal acid lipase enzyme breaks down lipids such as cholesteryl esters and triglycerides. The lipids produced through these processes, cholesterol and fatty acids, are used by the body or transported to the liver for removal.

What diseases are associated with lipase?

Three rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

• Lysosomal acid lipase deficiency (LAL-D)
• Wolman disease (early onset lysosomal acid lipase deficiency)
• Cholesteryl ester storage disease (CESD)

Is lysosomal acid lipase deficiency a rare disease?

Lysosomal Acid Lipase Deficiency is a rare, genetic condition that causes individuals to have an uncontrolled buildup of fatty material in their cells. Most people will have symptoms of Lysosomal Acid Lypase Deficiency by the age of 5.