PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
Arch Dis Child. Oct 1970; 45(243): 664–668.
PMCID: PMC1647526
Deficiency of Acid Esterase Activity in Wolman's Disease
Elisabeth P. Young and A. D. Patrick
Abstract
Liver, spleen, and leucocytes from patients with acid triglyceride lipase deficiency (Wolman's disease and its clinical variants) were also found to possess greatly reduced activity of an acid esterase acting on fatty acid esters of p-nitrophenol, thereby substantiating the view that a single enzyme is responsible for these different activities. The acid esterase was resistant to the microsomal esterase inhibitor, E600, and showed broad specificity with respect to fatty acid chain length of the p-nitrophenyl esters. Other lysosomal hydrolase activities were increased non-specifically in liver from patients, thus providing further support for the classification of acid lipase deficiency as an inborn lysosomal disease. The highly sensitive leucocyte assay provides a convenient method for the diagnosis of clinical variants of Wolman's disease; it might therefore prove particularly useful in the early detection of affected infants, and also possibly in the differentiation of heterozygotes.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (753K), or click on a page image below to browse page by page.
Articles from Archives of Disease in Childhood are provided here courtesy of
BMJ Group