Wolman disease
(vol'măn 
)
[Moshe Wolman, Polish-born Israeli neuropathologist, 1914–2009]
A rare autosomal recessive lysosomal storage disease with onset and death occurring in the first year of life.
Incidence: Wolman disease occurs in approx. 1 of 500,000 live births. In the U.S., approx. 8 infants are born with Wolman disease each year.
Causes: Wolman disease is an autosomal recessive disease, which causes a deficiency of the enzyme lysosomal acid lipase, which breaks down certain lipids inside the cells.
Symptoms and Signs: Abdominal distention, vomiting, and significant enlargement of the liver or spleen may occur.
Treatment: Although there is no cure for Wolman disease, enzyme replacement therapy with sebelipase alfa improves lipid and liver function. SYN: lysosomal acid lipase deficiency.
SEE: acid lipase deficiency.