Wolman disease is an autosomal recessive storage disorder caused by very low (or absent) lysosomal acid lipase (LAL) activity. Deficiency of this enzyme leads to massive intracellular accumulation of cholesteryl esters and triglycerides. It represents the severe form of LAL deficiency in which patients present in early infancy with steatorrhoea, chronic emesis, failure to thrive, and hepatosplenomegaly. Without treatment, affected individuals usually die during the first year of life.

Additional contributors: R Bouguelaa, C Boukaaba, Z Boudiaf, A Ramdani