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Arch Dis Child. 1970 October; 45(243): 664–668.
PMCID: PMC1647526

Deficiency of Acid Esterase Activity in Wolman's Disease


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.

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Selected References

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  • Mahadevan S, Tappel AL. Hydrolysis of higher fatty acid esters of p-nitrophenol by rat liver and kidney lysosomes. Arch Biochem Biophys. 1968 Sep 10;126(3):945–953. [PubMed]
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  • Patrick AD, Lake BD. Deficiency of an acid lipase in Wolman's disease. Nature. 1969 Jun 14;222(5198):1067–1068. [PubMed]
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  • WOLMAN M, STERK VV, GATT S, FRENKEL M. Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics. 1961 Nov;28:742–757. [PubMed]

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