Wolman disease

(redirected from Wolman syndrome)

cho·les·ter·ol es·ter stor·age dis·ease

[MIM*278000]
a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q.

Wolman disease

(wôl′mən)
n.
A lysosomal storage disease caused by deficiency of an enzyme that breaks down lipids, characterized by the accumulation of cholesterol esters and triglycerides in the tissues and resulting in enlargement of the liver and spleen, abdominal distension, steatorrhea, cachexia, and usually death in infancy.

cho·les·ter·ol es·ter stor·age dis·ease

(kŏ-les'tĕr-ol es'tĕr stōr'ăj di-zēz')
A lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal and lipase gene (LIPA) on chromosome 10q.
Synonym(s): Wolman disease, Wolman xanthomatosis.

Wolman,

Moske, Israeli neuropathologist, 1914–.
Wolman disease - lipidosis caused by deficiency of liposomal acid lipase activity. Synonym(s): cholesterol ester storage disease
Wolman xanthomatosis