Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1970 Oct;45(243):664–668. doi: 10.1136/adc.45.243.664

Deficiency of Acid Esterase Activity in Wolman's Disease

Elisabeth P Young, A D Patrick
PMCID: PMC1647526  PMID: 5477680

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

PDF
664

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ABRAMOV A., SCHORR S., WOLMAN M. Generalized xanthomatosis with calcified adrenals. AMA J Dis Child. 1956 Mar;91(3):282–286. doi: 10.1001/archpedi.1956.02060020284010. [DOI] [PubMed] [Google Scholar]
  2. CROCKER A. C., VAWTER G. F., NEUHAUSER E. B., ROSOWSKY A. WOLMAN'S DISEASE: THREE NEW PATIENTS WITH A RECENTLY DESCRIBED LIPIDOSIS. Pediatrics. 1965 Apr;35:627–640. [PubMed] [Google Scholar]
  3. Guazzi G. C., Martin J. J., Philippart M., Roels H., van der Eecken H., Vrints L., Delbeke M. J., Hooft C. Wolman's disease. Eur Neurol. 1968;1(6):334–362. doi: 10.1159/000113673. [DOI] [PubMed] [Google Scholar]
  4. Kahana D., Berant M., Wolman M. Primary familial xanthomatosis with adrenal involvement (Wolman's disease). Report of a further case with nervous system involvement and pathogenetic considerations. Pediatrics. 1968 Jul;42(1):70–76. [PubMed] [Google Scholar]
  5. Konno T., Fujii M., Watanuki T., Koizumi K. Wolman's disease: the first case in Japan. Tohoku J Exp Med. 1966 Dec;90(4):375–389. doi: 10.1620/tjem.90.375. [DOI] [PubMed] [Google Scholar]
  6. Lake B. D., Patrick A. D. Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes. J Pediatr. 1970 Feb;76(2):262–266. doi: 10.1016/s0022-3476(70)80172-x. [DOI] [PubMed] [Google Scholar]
  7. Mahadevan S., Tappel A. L. 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. doi: 10.1016/0003-9861(68)90488-8. [DOI] [PubMed] [Google Scholar]
  8. Marshall W. C., Ockenden B. G., Fosbrooke A. S., Cumings J. N. Wolman's disease. A rare lipidosis with adrenal calcification. Arch Dis Child. 1969 Jun;44(235):331–341. doi: 10.1136/adc.44.235.331. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Patrick A. D., Lake B. D. Deficiency of an acid lipase in Wolman's disease. Nature. 1969 Jun 14;222(5198):1067–1068. doi: 10.1038/2221067a0. [DOI] [PubMed] [Google Scholar]
  10. Van Hoof F., Hers H. G. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem. 1968 Dec;7(1):34–44. doi: 10.1111/j.1432-1033.1968.tb19570.x. [DOI] [PubMed] [Google Scholar]
  11. WOLMAN M., STERK V. V., 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] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES