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Logo of jcinvestThe Journal of Clinical Investigation
J Clin Invest. 1972 July; 51(7): 1923–1926.
PMCID: PMC292343

Enzyme deficiency in cholesteryl ester storage disease


Cholesteryl ester storage disease has been shown to involve severe deficiency of acid cholesteryl ester hydrolase and triglyceride lipase activity in liver, spleen, and lymph node. The cholesteryl ester hydrolase was also deficient in aorta. Tissue storage of both cholesteryl esters and triglycerides is generalized. Both the lipid and enzymatic changes are very similar to those in Wolman's disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • 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]
  • Patrick AD, Lake BD. Deficiency of an acid lipase in Wolman's disease. Nature. 1969 Jun 14;222(5198):1067–1068. [PubMed]
  • Burke JA, Schubert WK. Deficient activity of acid lipase in cholesterol-ester storage disease. J Lab Clin Med. 1971 Dec;78(6):988–989. [PubMed]
  • DEYKIN D, GOODMAN DS. The hydrolysis of long-chain fatty acid esters of cholesterol with rat liver enzymes. J Biol Chem. 1962 Dec;237:3649–3656. [PubMed]
  • Kwiterovich PO, Jr, Sloan HR, Fredrickson DS. Glycolipids and other lipid constituents of normal human liver. J Lipid Res. 1970 Jul;11(4):322–330. [PubMed]
  • LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed]
  • Schotz MC, Garfinkel AS, Huebotter RJ, Stewart JE. A rapid assay for lipoprotein lipase. J Lipid Res. 1970 Jan;11(1):68–69. [PubMed]
  • Sloan HR, Uhlendorf BW, Jacobson CB, Fredrickson DS. Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis. Pediatr Res. 1969 Nov;3(6):532–537. [PubMed]
  • Sloan HR, Uhlendorf BW, Kanfer JN, Brady RO, Fredrickson DS. Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun. 1969 Mar 10;34(5):582–588. [PubMed]
  • Stoffel W, Greten H. Studies on lipolytic activities of rat liver lysosomes. Hoppe Seylers Z Physiol Chem. 1967 Sep;348(9):1145–1150. [PubMed]

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