Advertisement

Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency Syndromes

  • Jiri Frohlich
  • Roger McLeod
Chapter
Part of the Advances in Experimetal Medicine and Biology book series (AEMB, volume 201)

Abstract

There are two types of LCAT deficiency: the primary or familial disorder and that secondary to other diseases.

Keywords

Hemolytic Anemia Corneal Opacity Cholesterol Acyltransferase LCAT Activity Lecithin Cholesterol Acyl Transferase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1).
    Dobiasova, M. Lecithin-cholesterol acyltransferase and the regulation of endogenous cholesterol transport. Adv. Lip. Res. 20:107–194 (1983).Google Scholar
  2. 2).
    Soloff, L.H., Ruttenberg, H.L., Lacko, A.G. Plasma lecithin-cholesterol acyltransferase activities after myocardial infarction. Am. Heart J. 326:419–427 (1973).Google Scholar
  3. 3).
    Dobiasova, M., Vondra, K. Lecithin-cholesterol acyltransferase as a possible diagnostic tool in ischemic heart disease. Scand. J. Clin. Lab. Invest. 38 (Suppl) 150:129–133 (1978).CrossRefGoogle Scholar
  4. 4).
    Wallentin, L. and Moberg, B. Lecithin-cholesterol acyl transfer rate and high density lipoprotein in coronary artery disease. Atherosclerosis 41:155–165 (1982).PubMedCrossRefGoogle Scholar
  5. 5).
    Misra, D.P., Staddon, G., Powell, N. and Crook, D. Lecithin-cholesterol acyltransferase activity in diabetes mellitus and effect of insulin on these cases. Clin. Chim. Acta 56:83–87 (1974).PubMedCrossRefGoogle Scholar
  6. 6).
    Mattock, M.B., Fuller, J.H., Maude, P.S. and Keen, H. Lipoproteins and plasma cholesterol esterification in normal and diabetic subjects. Atherosclerosis 34:437–669 (1979).PubMedCrossRefGoogle Scholar
  7. 7).
    Miller, J.P., Thompson, G.R. Lecithin-cholesterol acyltransferase activity in subjects with malabsorption. Eur. J. Clin. Invest. 3:401–406 (1973).PubMedCrossRefGoogle Scholar
  8. 8).
    Guarnieri, G.F., Moracchiello, M., Companacci, L., Ursini, F., Ferri, L., Valente, M., Gregolin, C. Lecithin-cholesterol acyltransferase (LCAT) activity in chronic uremia. Kidney Int. 13 (Suppl) 8:S26–S30 (1978).Google Scholar
  9. 9).
    Jung, K., Neumann, R., Precht, K., Nugel, E., Scholz, D. Lecithin-cholesterol acyltransferase activity, HDL-cholesterol and apolipoprotein A in serum of patients undergoing chronic hemodialysis. Enzyme 25:273–275 (1980).PubMedGoogle Scholar
  10. 10).
    Chan, M.K., Ramdial, L., Varghese, Z., Persand, J.W., Baillod, R.A., Moorhead, J.F. Plasma lecithin-cholesterol acyltransferase activities in uremic patients. Clin. Chim. Acta 119:65–72 (1982).PubMedCrossRefGoogle Scholar
  11. 11).
    McLeod, R., Reeve, C.E., Frohlich, J. Plasma lipoproteins and lecithin-cholesterol acyltransferase distribution in patients on hemodialysis. Kidney Infl. 25:683–688 (1984).CrossRefGoogle Scholar
  12. 12).
    Yao, J.K., Ellefson, R.D., Dyck, P.J. Lipid abnormalities in hereditary neuropathy. Part 1. Serum non-polar lipids. J. Neurol. Sci. 29:161–175 (1976).PubMedCrossRefGoogle Scholar
  13. 13).
    Cooper, R.A., Gulbrandsen, C.L. The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: Deficiency of lecithin-cholesterol acyltransferase. J. Lab. Clin. MEd. 78:323 (1971).PubMedGoogle Scholar
  14. 14).
    Kostner, G., Holasek, A., Bohlmann, H.G., Thiede, H. Investigation of serum lipoproteins and apoproteins in abetalipoproteinemia. Clin. Sci. Mol. Med. 46:457 (1974).PubMedGoogle Scholar
  15. 15).
    Scanu, A.M., Aggerbeck, L.P., Kruski, A.W., Lim, CT., Kayden, H.J. A study of the abnormal lipoproteins in abetalipoproteinemia. J. Clin. Invest. 53:440 (1974).PubMedCrossRefGoogle Scholar
  16. 16).
    Clifton-Bligh, P., Nestel, P.J., Whyte, H.M. Tangier disease: Report of a case and studies of lipid metabolism. N. Engl. J. Med. 286:567 (1972).PubMedCrossRefGoogle Scholar
  17. 17).
    Scherer, R., Rukenstroth-Bauer, G. Untersuchung der lecithin-cholesterincyltransferase-aktivitat im Serum von drei Patienten mit Tangier-krankheit (Hyp-alpha-lipoproteinamie). Clin. Wochenschr. 51:1059 (1973).CrossRefGoogle Scholar
  18. 18).
    Greten, H., Hannemann, T., Gusek, W., Vivell, O. Lipoproteins and lipolytic plasma enzymes in a case of Tangier disease. N. Engl. J. Med. 291:548 (1974).PubMedCrossRefGoogle Scholar
  19. 19).
    Yao., J.K., Herbert, P.N., Fredrickson, D.S., Ellefson, R.D., Heinen, R.J., Forte, T., Dyck, P.J. Biochemical studies in a patient with a Tangier syndrome. J. Neuropathol. Exp. Neurol. 37:138 (1978).PubMedCrossRefGoogle Scholar
  20. 20).
    Pritchard, H.P. Lipoprotein deficiency syndromes. Ed. Angel, A. and Frohlich, J., Plenum (1985).Google Scholar
  21. 21).
    Norum, R.A., Lakier, J.B., Goldstein, S. et al. Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease. New Engl. J. Med. 306:1513–1517 (1982).PubMedCrossRefGoogle Scholar
  22. 22).
    Gjone, E., Norum, K.R., Glomset, J.A. Familial lecithin-cholesterol acyltransferase deficiency. In the Metabolic Basis of Inherited Disease. Eds. Stanbury, J.B., Wyngaarden, J.B., Fredrickson, D.S., 4th Edn. New York, McGraw-Hill, pp 589–603 (1978).Google Scholar
  23. 23).
    Utermann, G., Schoenborn, W., Langer, K.H. et al. Lipoproteins in LCAT deficiency. Humanagenetik 16:295–306 (1972).Google Scholar
  24. 24).
    Bron, A.J., Lloyd, J.K., Fosbrooke, A.S., Winder, A.F., Tripathi, R.C. Primary LCAT deficiency disease. Lancet 1:928–929 (1975)PubMedCrossRefGoogle Scholar
  25. 25).
    Winder, A.G., Bron, A.J. Lecithin-cholesterol acyltransferase deficiency presenting as visual impairment, with hypocholesterolemia. and normal renal function. Scand. J. Clin. Lab. Invest. 38 (Suppl) 150:151–155 (1978).CrossRefGoogle Scholar
  26. 26).
    Bethell, W., McCulloch, C., Ghosh, M. Lecithin cholesterol acyltransferase deficiency. Light and electron microscopy findings from two corneas. Can. J. Opthalmol. 10:49–51 (1975).Google Scholar
  27. 27).
    Chevet, D., Ramee, M.P., LePogamp, P., Thomas, R., Garre, M., Alcindor, L.G. Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters. Nephron. 29:212–219 (1978).CrossRefGoogle Scholar
  28. 28).
    Frohlich, J., Godolphin, W.J., Reeve, C.E., Evelyn, K.A. Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent. Scand. J. Clin. Lab. Invest. 38 (Suppl) 150:156–161 (1978).CrossRefGoogle Scholar
  29. 29).
    Iwamoto, A., Naito, C., Teramoto, T., Kato, H., Kako, M., Kariya, T., Shimizu, T., Oka, A., Oda, T. Familial lecithin-cholesterol acyltransferase deficiency complicated with unconjugated hyperbilirubinemia and peripheral neuropathy. Acta. Med. Scand. 204:219–227 (1978).PubMedCrossRefGoogle Scholar
  30. 30).
    Shojania, M.A., Jain, S.K., Shohet, S.B. Hereditary lecithin-cholesterol acyltransferase deficiency. Report of 2 new cases and review of the literature. Clin. Invest. Med. 6:49–45 (1983).PubMedGoogle Scholar
  31. 31).
    Borysiewicz, L.K., Soutar, A.K., Evans, D.J., Thompson, G.R., Rees, A.J. Renal failure in familial lecithin-cholesterol acyltransferase deficiency. Quarter J. Med. 204:411–26 (1982).Google Scholar
  32. 32).
    Gjone, E., Blomhoff, J.P., Holme, R., Torstein, H., Bjornar, O., Scarbovik, A.J., Teisbert, P. Familial lecithin-cholesterol acyltransferase deficiency. Report of a fourth family from north-western Norway. Acta. Med. Scand. 210:3–6 (1981).PubMedCrossRefGoogle Scholar
  33. 33).
    Kane, J. Personal communication (1984).Google Scholar
  34. 34).
    Zech, L., Brewer, B. Personal communication (1984).Google Scholar
  35. 35).
    Vergani, C., Catapano, A.L., Roma, P., Guidici, G. A new case of familial LCAT deficiency. Acta. Med. Scand. 214:173–6 (1983).PubMedCrossRefGoogle Scholar
  36. 36).
    Sakuma, M., Akanuma, Y., Kodama, T., Yamada, N., Murata, S., Murase, T., Itakura, H., Kosaka, K. Familial plasma lecithin-cholesterol acyltransferase deficiency. A family with partial deficiency of plasma LCAT activity. Acta. Med. Scand. 212:225–32 (1982).PubMedCrossRefGoogle Scholar
  37. 37).
    Murayama, N., Asano, K., Kato, Y. et al. Effects of plasma infusion on plasma lipids, apoproteins, and plasma enzyme activities in familial lecithin-cholesterol acyltransferase deficiency. Eur. J. Clin. Invest. 14:122–129 (1984).PubMedCrossRefGoogle Scholar
  38. 38).
    Winder, A., Garner, A., Sheraidah, G.A. Pathology of cornea in familial LCAT deficiency. Abstract, Intl. Conf. on Lipopr. Def. Syndromes, Vancouver, B.C., May 13-14 (1985).Google Scholar
  39. 39).
    Gjone, E. Familial lecithin-cholesterol acyltransferase deficiency — a new metabolic disease with renal involvement. Adv. Nephrol. 10:167–185 (1981).Google Scholar
  40. 40).
    Flatmark, A.L., Hovig, T., Mahre, E., Gjone, E. Renal transplantation in patients with familial lecithin-cholesterol acyltransferase deficiency. Transplant. Proc. 9:1665–1671 (1977).PubMedGoogle Scholar
  41. 41).
    French, S.W., Yamanaka, W., Ostwald, R. Dietary induced glomerulosclerosis in the guinea pig. Arch. Path. 83:204–210 (1967).PubMedGoogle Scholar
  42. 42).
    French, S.W., Wood, C., Benson, N., Ostwald, R. Mesangial proliferation in hemolytic anemia induced by a 1% cholesterol diet (unpublished).Google Scholar
  43. 43).
    Brenner, B.M., Meyer, T.W., Hostetter, T.H. Dietary protein intake and the progressive nature of kidney disease. N. Engl. J. Med. 307:652–658 (1982).PubMedCrossRefGoogle Scholar
  44. 44).
    El Shebeb, T., Frohlich, J., Magil, A. Effect of dietary protein supplement on the renal lesion in cholesterol-fed guinea pigs. In preparation.Google Scholar
  45. 45).
    Glomset, J.A., Norum, K.R., Gjone, E. Familial lecithin-cholesterol acyltransferase deficiency. In Metabolic Basis of Inherited Disease. Eds. Stanbury, J., Wyngaarden, J., Fredrickson, D.S., Goldstein, J.L., Brown, M. 5th edition, McGraw Hill, 643-654 (1983).Google Scholar
  46. 46).
    Norum, K.R. Familial deficiency of lecithin-cholesterol acyltransferase for treatment of hyperlipoproteinemia. Eds. L.A. Carlson and A.G. Olsson. Raven Press, N.Y. (1984).Google Scholar
  47. 47).
    Windier, E., Preger, S., Greten, H. The role of lysophosphatidylcholine in the regulation of the catabolism of triglyceride-rich lipoproteins. In: Cologne Atherosclerosis Conference No. 2 Lipids. Ed. Parnham, J., Birkhauser Verlag, pp 101-105 (1984).Google Scholar
  48. 48).
    Fielding, C.J. Inhibition of lipoprotein lipase by free cholesterol. Bioch. Biophy. Acta 218:221–232 (1970).CrossRefGoogle Scholar
  49. 49).
    Albers, J.J., Adolphson, J.C., Chen, C.H. Radioimmunoassay of human lecithin-cholesterol acyltransferase. J. Clin. Invest. 67:141–146 (1981).PubMedCrossRefGoogle Scholar
  50. 50).
    Frohlich, J., Hon, K., McLeod, R. Detection of heterozygotes for familial lecithin-cholesterol acyltransferase deficiency. Am. J. Hum. Genet. 34:65–72 (1982).PubMedGoogle Scholar
  51. 51).
    Stokke, K.T., Norum, K.R. Determination of lecithin-cholesterol acyltransferase in human blood plasma. Scand. J. Clin. Lab. Invest. 27:21–27 (1971).PubMedCrossRefGoogle Scholar
  52. 52).
    Albers, J.J., Bergelin, R.O., Adolphson, J.C. et al. Population-based reference values for lecithin-cholesterol acyltransferase (LCAT). Atherosclerosis 43:369–379 (1982).PubMedCrossRefGoogle Scholar
  53. 53).
    Albers, J.J., Chen, C-H., Adolphson, J.C. Familial lecithin: cholesterol acyltransferase: Identification of heterozygotes with half-normal enzyme activity and mass. Clin. Genet. 58:306–309 (1981).Google Scholar
  54. 54).
    Albers, J.J., Gjone, E., Adolphson, J.C. et al. Familial lecithin:cholesterol acyltransferase deficiency in four Norwegian families. Acta Med. Scand. 210:455–459 (1981).PubMedCrossRefGoogle Scholar
  55. 55).
    Albers, J.J., Uterman, G. Genetic control of lecithin-cholesterol acyltransferase: measurement of LCAT mass in a large kindred with LCAT deficiency. Am. J. Hum. Genet. 33:702–708 (1981).PubMedGoogle Scholar
  56. 56).
    Albers, J.J., Chen, C-H., Adolphson, J.C. et al. Familial lecithin:cholesterol acyltransferase deficiency in a Japanese family: Evidence for functionally defective enzyme in homozygotes and obligate heterozygotes. Hum. Genet. 62:82–85 (1982).PubMedCrossRefGoogle Scholar
  57. 57).
    Frohlich, J., McConnathy, W., McLeod, R. Plasma lipoproteins and LCAT activity in heterozygotes for familial LCAT deficiency. Abstract, International Conference in Lipoprotein Deficiency Syndromes, Vancouver, B.C., May 13-14 (1985).Google Scholar
  58. 58).
    Torsvik, H., Gjone, E., Norum, K.R. Familial plasma cholesterol ester deficiency study in a family. Acta Med. Scand. 183:387–391 (1968).PubMedCrossRefGoogle Scholar
  59. 59).
    Godin, D.V., Gray, G., Frohlich, J. Erythrocyte membrane alterations in lecithin:cholesterol acyltransferase deficiency. Scand. J. Clin. Lab. Invest. 38 (Suppl) 150:162–167 (1978).CrossRefGoogle Scholar
  60. 60).
    Maravajlia, B., Herring, F.G., Weeks, G., Godin, D.V. Detection of erythrocyte membrane abnormalities in lecithin:cholesterol acyltransferase deficiency using a spin label approach. J. Supramol. Struct. 11:1–7 (1979).CrossRefGoogle Scholar
  61. 61).
    Jain, S.K., Mohandas, N., Sensabaugh, G.F. et al. Hereditary plasma lecithin:cholesterol acyltransferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities. J. Lab. Clin. Med. 99:816–827 (1982).PubMedGoogle Scholar
  62. 62).
    Simon, J.B. Lecithin:cholesterol acyltransferase activity in liver disease. Scand. J. Clin. Lab. Invest. 33 (Suppl 137):107–111 (1974).CrossRefGoogle Scholar
  63. 63).
    Harry, D.S., Day, R.C., Owen, J.S. et al. Plasma lecithin: cholesterol acyltransferase activity and the lipoprotein abnormalities of liver disease. Scand. J. Clin. Lab. Invest. 38 (Suppl) 150:223–277 (1978).CrossRefGoogle Scholar
  64. 64).
    Sabesin, S.M., Kuiken, L.B., Ragland, J.B. Lipoprotein and lecithin:cholesterol acyltransferase changes in galactosamine-induced rat liver injury. Science 190:1302–1304 (1975).PubMedCrossRefGoogle Scholar
  65. 65).
    Von Lehmann, B., Grajewski, O. and Oberdisse, E. Correlation between serum lecithin:cholesterol acyltransferase activity and erythrocyte lipid content during experimental liver damage. Naunyn-Schmiedeberg’s Arch. Pharmacol. 298:211–216 (1977).CrossRefGoogle Scholar
  66. 66).
    Godin, D.V. and Frohlich, J. Erythrocyte attractions in praseodymium-induced lecithin: cholesterol acyltransferase (LCAT) deficiency in rat comparison with familial LCAT deficiency in man. Res. Commun. Chem. Pathol. Pharmacol. 31:555–556 (1981).PubMedGoogle Scholar
  67. 67).
    Drevon, C.A., Hovig, T. The effects of cholesterol fat feeding on lipid levels and morphological structures in liver, kidney and spleen in guinea pigs. Acta Path. Microbiol. Scand. Sect. A 85:1–18 (1977).Google Scholar
  68. 68).
    Humphries, S., Mclntyre, N., et al. Manuscript in preparation.Google Scholar
  69. 69).
    Murayama, N., Asano, Y., Hosoda, S., et al. Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial lecithin: cholesterol acyl transferase deficiency. Am. J. Hemat. 16:129–137 (1984).PubMedCrossRefGoogle Scholar
  70. 70).
    Frohlich, J., Bergseth, M., Reeve, C.E. Plasma ß-2-microglobulin and urinary albumin: creatinine ratio in lecithin:cholesterol acyltransferase deficiency. Nephron 32:96 (1982).PubMedCrossRefGoogle Scholar
  71. 71).
    Walli, A.K., Seidel, D. Role of CP-X in the pathogenesis of cholestatic hypercholesterolemia. J. Clin. Invest. 74:867–879 (1984).PubMedCrossRefGoogle Scholar
  72. 72).
    Ritland, S., Gjone, E. Quantitative studies of lipoprotein-X in familial lecithin:cholesterol acyltransferase deficiency and during cholesterol esterification. Clin. Chim. Acta 59:109–119 (1975).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1986

Authors and Affiliations

  • Jiri Frohlich
    • 1
  • Roger McLeod
    • 1
  1. 1.Shaughnessy Hospital, Lipoprotein Research Group, Department of PathologyUniversity of British ColumbiaVancouverCanada

Personalised recommendations