{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T13:25:09Z","timestamp":1783689909388,"version":"3.55.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"827","license":[{"start":{"date-parts":[[1994,9,1]],"date-time":"1994-09-01T00:00:00Z","timestamp":778377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1994,9,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Phytosterolaemia (beta-sitosterolaemia), a rare, autosomal recessive disorder, has not hitherto been reported in Southern Africa. We report four new homozygous patients, from three unrelated families with significant beta-sitosterolaemia (6.6-11.3%), campesterolaemia (2.2-4.6%) and clearly detectable, though unquantified, levels of cholestanol. Three of the four patients had characteristic cutaneous and tendinous xanthomas within the first decade of life. The fourth patient, a 5 year old, was free of xanthomas despite persistently elevated concentrations of plant sterols in her plasma. All our patients were female bringing the male:female ratio in reported cases to 8:23. All were at or below the 50th percentile for height and weight, and presented at some stage with borderline, hypochromic anaemia associated with red cell abnormalities and thrombocytopaenia. The oldest patient showed suggestive clinical evidence of atherosclerosis affecting her aorta, ileofemoral bifurcation and possibly coronary arteries. All homozygotes responded to a diet restricted in phytosterols and the administration of cholestyramine with falls in plasma sterols of up to 68%.<\/jats:p><jats:p>The recent discovery of a possible inherited defect in the synthesis of HMG CoA reductase in patients with phytosterolaemia makes this disorder a model system for studying the biological role of this enzyme in regulating the absorption and clearance of sterols other than cholesterol, and the factors governing the sterol composition of cell membranes.<\/jats:p>","DOI":"10.1136\/pgmj.70.827.631","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T21:25:21Z","timestamp":1230585921000},"page":"631-637","source":"Crossref","is-referenced-by-count":15,"title":["Phytosterolaemia in three unrelated South African families"],"prefix":"10.1093","volume":"70","author":[{"given":"G M B","family":"Berger","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, University of Natal Medical School , Durban, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W M","family":"Deppe","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, University of Natal Medical School , Durban, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A D","family":"Marais","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, University of Natal Medical School , Durban, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Biggs","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, University of Natal Medical School , Durban, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[1994,9,1]]},"reference":[{"key":"ref_1","first-page":"1033","article-title":"P-Sitosterolaemia and xanthomatosis. A newly described lipid storage disease in two sisters","volume":"53","author":"Bhattacharyya, A.K.; Connor, W.E.","year":"1974","unstructured":"Bhattacharyya, A.K. & Connor, W.E. P-Sitosterolaemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 1974, 53: 1033-1043.","journal-title":"J Clin Invest"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/S0022-2275(20)41411-7","volume":"33","author":"Salen, G.; Shefer, S.; Nguyen, L.; Ness, G.C.; Tint, G.S.; Shore, V.Sitosterolaemia","year":"1992","unstructured":"Salen, G., Shefer, S., Nguyen, L., Ness, G.C., Tint, G.S. & Shore, V. Sitosterolaemia. J Lipid Res 1992, 33: 945-955.","journal-title":"J Lipid Res"},{"key":"ref_3","first-page":"1283","article-title":"Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolaemia","volume-title":"The Metabolic Basis of Inherited Disease","author":"Bjorkhem, I.; Skrede, S.","year":"1989","unstructured":"Bjorkhem, I. & Skrede, S. Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolaemia. In: Scriver, C.R., Beadet, A.L., Sly, W.S. & Valle, D. (eds) The Metabolic Basis of Inherited Disease. McGraw-Hill, New York. 1989, pp. 1283-1302."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/0002-9343(81)90134-0","article-title":"A unique patient with coexisting cerebrotendinous xanthomatosis and P-sitosterolaemia","volume":"71","author":"C., Wang; Lin, H.J.; Chan, T.-K.; Salen, G.; Chan, W.-C.; Tse, T.-F.","year":"1981","unstructured":"Wang C., Lin, H.J., Chan, T.-K., Salen, G., Chan, W.-C. & Tse, T.-F. A unique patient with coexisting cerebrotendinous xanthomatosis and P-sitosterolaemia. Am J Med 1981, 71: 313-319.","journal-title":"Am J Med"},{"key":"ref_5","first-page":"397","article-title":"Familial phytosterolaemia: cholestanolaemia and abnormal bile composition","volume":"28","author":"Khachadurian, A.K.; Salen, G.","year":"1980","unstructured":"Khachadurian, A.K. & Salen, G. Familial phytosterolaemia: cholestanolaemia and abnormal bile composition. Clin Res 1980, 28: 397A.","journal-title":"Clin Res"},{"key":"ref_6","first-page":"33","article-title":"Neutral sterolaemia and xanthomas","volume":"60","author":"Whitington, G.L.; Ragland, J.B.","year":"1979","unstructured":"Whitington, G.L. & Ragland, J.B. Neutral sterolaemia and xanthomas. Circulation 1979, 60: 33.","journal-title":"Circulation"},{"issue":"26","key":"ref_7","first-page":"1126","article-title":"Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolaemia with xanthomatosis","volume":"1985","author":"Salen, G.; Horak, I.; Rothkopf, M.","unstructured":"Salen, G., Horak, I., Rothkopf, M. et al. Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolaemia with xanthomatosis. J Lipid Res 1985, 26: 1126-1133.","journal-title":"J Lipid Res"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/S0022-2275(20)42787-7","article-title":"Increased plasma plant sterol levels in heterozygotes with sitosterolaemia and xanthomatosis","volume":"31","author":"Hidaka, H.; Nakamura, T.; Aoki, T.","year":"1990","unstructured":"Hidaka, H., Nakamura, T., Aoki, T. et al. Increased plasma plant sterol levels in heterozygotes with sitosterolaemia and xanthomatosis. J Lipid Res 1990, 31: 881-887.","journal-title":"J Lipid Res"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1365-2362.1980.tb00006.x","article-title":"Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis","volume":"10","author":"Miettinen, T.A.","year":"1980","unstructured":"Miettinen, T.A. Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. Eur J Clin Invest 1980, 10: 27-35.","journal-title":"Eur J Clin Invest"},{"key":"ref_10","first-page":"213","article-title":"Clinical and metabolic findings in a patient with phytosterolaemia","volume":"29","author":"Watts, G.F.; Mitchell, W.D.","year":"1992","unstructured":"Watts, G.F. & Mitchell, W.D. Clinical and metabolic findings in a patient with phytosterolaemia. Ann Clin Biochem 1992, 29: 213-236.","journal-title":"Ann Clin Biochem"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1542\/peds.86.6.977","article-title":"Response to diet and cholestyramine in a patient with sitosterolaemia","volume":"86","author":"Belamarich, P.F.; Deckelbaum, R.J.; Starc, T.J.; Dobrin, B.E.; Tint, G.S.; Salen, G.","year":"1990","unstructured":"Belamarich, P.F., Deckelbaum, R.J., Starc, T.J., Dobrin, B.E., Tint, G.S. & Salen, G. Response to diet and cholestyramine in a patient with sitosterolaemia. Paediatrics 1990, 86: 977-981.","journal-title":"Paediatrics"},{"key":"ref_12","first-page":"466","article-title":"Hyperapobetalipoproteinaemia in two families with xanthoma and phytosterolaemia","volume":"ii:","author":"true","year":"1981","unstructured":"Kwiterovich, P.O.Jr, Bachorik, P.S., Smith, H.H. et al. Hyperapobetalipoproteinaemia in two families with xanthoma and phytosterolaemia. Lancet 1981, ii: 466-469.","journal-title":"Lancet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1056\/NEJM197602262940907","article-title":"P-Sitosterolaemia and xanthomatosis","volume":"294","author":"Shulman, R.S.; Bhattacharyya, A.K.; Connor, W.E.; Fredrickson, D.S.","year":"1976","unstructured":"Shulman, R.S., Bhattacharyya, A.K., Connor, W.E. & Fredrickson, D.S. P-Sitosterolaemia and xanthomatosis. N Engl J Med 1976, 294: 482-483.","journal-title":"N Engl J Med"},{"issue":"836","key":"ref_14","first-page":"368","article-title":"The presence of Sa-sitostanol in the serum of a patient with phytosterolaemia and its biosynthesis from plant steroids in rats with bile fistula","volume":"1985","author":"Skrede, B.; Bjorkhem, I.; Bergesen, O.; Kayden, H.J.; Skrede, S.","unstructured":"Skrede, B., Bjorkhem, I., Bergesen, O., Kayden, H.J. & Skrede, S. The presence of Sa-sitostanol in the serum of a patient with phytosterolaemia and its biosynthesis from plant steroids in rats with bile fistula. Biochim Biophys Acta 1985, 836: 368-375.","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"ref_15","first-page":"47","article-title":"Phytosterolemia and type II hyperlipoproteinemia with tuberous xanthomas","volume":"1981","author":"Matsuo, I.; Yoshino, K.; Ozawa, A.; Ohkido, M.","unstructured":"Matsuo, I., Yoshino, K., Ozawa, A. & Ohkido, M. Phytosterolemia and type II hyperlipoproteinemia with tuberous xanthomas. J Am Acad Dermatol 1981, 4: 47-49.","journal-title":"J Am Acad Dermatol"},{"issue":"108","key":"ref_16","first-page":"254","article-title":"Phytosterolaemia and hypercholesterolaemia in childhood","volume":"1986","author":"McArthur, R.G.; Roncari, A.K.; Little, J.A.; Kuksis, A.; Myher, J.J.; Marai, L.","unstructured":"McArthur, R.G., Roncari, A.K., Little, J.A., Kuksis, A., Myher, J.J. & Marai, L. Phytosterolaemia and hypercholesterolaemia in childhood. JPediatr 1986,108:254-256.","journal-title":"JPediatr"},{"key":"ref_17","first-page":"926","article-title":"Molecular defect in cholesterol synthesis in sitosterolaemia with xanthomatosis","volume":"86","author":"Nguyen, L.B.; Shefer, S.; Salen, G.; Ness, G.S.; Ting, G.S.; Zaki Ram, I.","year":"1990","unstructured":"Nguyen, L.B., Shefer, S., Salen, G., Ness, G.S., Ting, G.S. & Zaki Ram, I. Molecular defect in cholesterol synthesis in sitosterolaemia with xanthomatosis. J Clin Invest 1990, 86: 926-931.","journal-title":"J Clin Invest"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/0026-0495(90)90260-J","article-title":"Decreased cholesterol biosynthesis in sitosterolaemia with xanthomatosis: diminished mononuclear leucocyte 3-hydroxy-3-methyglutaryl coenzyme A reductase activity and enzyme protein associated with increased lowdensity lipoprotein receptor function","volume":"39","author":"Nguyen, L.B.; Salen, G.; Shefer, S.; Tint, G.S.; Shore, V.; Ness, G.C.","year":"1990","unstructured":"Nguyen, L.B., Salen, G, Shefer, S., Tint, G.S., Shore, V. & Ness, G.C. Decreased cholesterol biosynthesis in sitosterolaemia with xanthomatosis: diminished mononuclear leucocyte 3-hydroxy-3-methyglutaryl coenzyme A reductase activity and enzyme protein associated with increased lowdensity lipoprotein receptor function. Metabolism 1990, 39: 436-443.","journal-title":"Metabolism"},{"key":"ref_19","first-page":"492","article-title":"Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolaemia","volume":"38","author":"Beaty, T.H.; Kwiterovich, P.O.; Khoury, M.J.","year":"1986","unstructured":"Beaty, T.H., Kwiterovich, P.O., Khoury, M.J. et al. Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolaemia. Am J Hum Genet 1986, 38: 492-504.","journal-title":"Am J Hum Genet"},{"key":"ref_20","article-title":"Lipid Research Clinics Programme. Manual of Laboratory Operations. Lipid and Lipoprotein Analysis Revised. US Department of Health and Human Services","year":"1982","unstructured":"Lipid Research Clinics Programme. Manual of Laboratory Operations. Lipid and Lipoprotein Analysis Revised. 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Metabolism 1983, 32: 126-133.","journal-title":"Metabolism"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/S0022-2275(20)38259-6","article-title":"Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolaemia with xanthomatosis","volume":"30","author":"Salen, G.; Shore, V.; Tint, G.S.","year":"1989","unstructured":"Salen, G., Shore, V., Tint, G.S. et al. Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolaemia with xanthomatosis. J Lipid Res 1989, 30: 1319-1330.","journal-title":"J Lipid Res"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1161\/01.ATV.11.5.1287","article-title":"Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into the bile cause expansion of body pool of sitosterol in patients with sitosterolaemia and xanthomatosis","volume":"11","author":"Bhattacharyya, A.K.; Conner, W.E.; Lin, D.S.; McMurry, M.M.; Shulman, R.S.","year":"1991","unstructured":"Bhattacharyya, A.K., Conner, W.E., Lin, D.S., McMurry, M.M. & Shulman, R.S. Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into the bile cause expansion of body pool of sitosterol in patients with sitosterolaemia and xanthomatosis. 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(eds) Annals of the New York Academy of Science, Vol. 414, 1983, pp. 44-56.","journal-title":"(eds) Annals of the New York Academy of Science"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/70\/827\/631\/50217885\/postgradmedj-70-631.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/70\/827\/631\/50217885\/postgradmedj-70-631.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T06:42:15Z","timestamp":1684824135000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/70\/827\/631\/7042330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9,1]]},"references-count":28,"journal-issue":{"issue":"827","published-online":{"date-parts":[[1994,9,1]]},"published-print":{"date-parts":[[1994,9,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.70.827.631","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1994,9]]},"published":{"date-parts":[[1994,9,1]]}}}