Wolman’s Disease: Understanding Rare Genetic Neurobiology
Introduction and Definition Wolman’s Disease (WD), historically referred to as primary familial xanthomatosis, is an extremely rare and severe autosomal recessive lysosomal storage disorder. It is fundamentally characterized by a profound insufficiency of the enzyme lysosomal acid lipase (LAL), an essential enzyme required for the proper hydrolysis and recycling of lipid molecules, specifically cholesteryl esters […]