Wolman disease (WD) is a rare genetic disorder which is characterized by complete absence of an enzyme known as lysosomal acid lipase (LAL). LAL is required to break down (metabolize) certain fats (lipids) in the body. Without LAL, certain fats may abnormally accumulate in the tissues and organs of the body causing a variety of symptoms.

WD affects males and females in equal proportion. Around 50 cases of WD have been reported in the medical literature so far. However cases of WD may go undiagnosed or misdiagnosed making it difficult to determine the disorder’s true frequency in the general population. WD was named after one of the physicians who first identified the disorder in the medical literature in 1956.

WD can cause bloat or swell of the stomach (abdominal distention), vomiting, and significant enlargement of the liver or spleen (hepatosplenomegaly). Life-threatening complications often develop during early childhood. WD is caused by mutations in the lysosomal acid lipase gene and is inherited as an autosomal recessive trait.

The WD symptoms generally appear shortly after birth or during initial weeks of the life. Affected newborns may have significant enlargement of the liver and spleen. Scarring (fibrosis) of the liver may also occur. In some cases, fluid may accumulate in the abdominal cavity (ascites).

Infants with WD have serious digestive abnormalities including malabsorption, a condition in which the intestines fail to absorb nutrients and calories form food.

A diagnosis of WD may be suspected in newborn infants based upon identification of characteristic symptoms such as abnormally enlarged liver and gastrointestinal problems.

In December 2015, US FDA approved Kanuma (sebelipasa alfa)  as the first treatment for people with LAL deficiency.