Proposed Treatment for Infants With Wolman Disease
- 1 June 1989
- journal article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 83 (6) , 1074-1075
- https://doi.org/10.1542/peds.83.6.1074a
Abstract
Presently available information indicates that Wolman disease is due to a defect in a single lysosomal enzyme molecule, called acid lipase, esterase, or cholesterol ester hydrolase (EC3.1.1.13). Cells of the reticuloendothelial system, hepatocytes, adrenocortical, and presumably many other cells normally, contain a neutral esterase associated with their microsomes, which is not deficient in Wolman disease. Theoretically, catabolism of intracellular hydrophobic cholesterol (esters and triglycerides) should proceed normally in Wolman disease cells whenever the metabolic chain does not depend on lysosomal hydrolysis.Keywords
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