Lecithin:cholesterol acyltransferase deficiency, familial

F6. Forte, G. M., Norum, K. 11., Glomset, J. A., and Nichols, A. V., Plasma lipoproteins in familial lecithin cholesterol acyltransferase deficiency structure of low- and high-density lipoproteins as recorded by electron microscopy. J. Clin. Invest. 50, 1141-1148 (1971). 

Tl. Torsvik, H., Presence of ai-lipoprotein in patients with familial plasma lecithin cholesterol acyltransferase deficiency. Scand. J. Clin. Lab. Invest. 24, 187-196 (1969). 

Rare genetic disorders, including Tangier disease and LCAT (lecithin cholesterol acyltransferase) deficiency, are associated with extremely low levels of HDL. Familial hypoalphalipoproteinemia is a more common disorder with levels of HDL cholesterol usually below 35 mg/dL in men and 45 mg/dL in women. These patients tend to have premature atherosclerosis, and the low HDL may be the only identified risk factor. Management should include special attention to avoidance or treatment of other risk factors. Niacin increases HDL in many of these patients. Reductase inhibitors and fibric acid derivatives exert lesser effects. 

M37. Mitchell, C. D., King, W. C., Applegate, K. R., Forte, T., Clomset, J. A., Norum, K. R., and Cjone, E., Characterization ofapolipoprotein E-rich high density lipoproteins in familial lecithin cholesterol acyltransferase deficiency. /. Lipid Res. 21, 625-634 (1980). 

Soutar, A. K., Night, B. L., and Myant, N. B., The characterization oflipoproteins in the high density fraction obtained from patients with familial lecithin cholesterol acyltransferase deficiency and their interaction with cultured human fibroblasts. /. lipid Res. 23, 380-390 (1982). 

Familial lecithin Cholesterol acyltransferase deficiency, including fish eye disease, K. R. Norum, E. Gjone and J. 

According to the above developed scheme of HDL and LDL structure, the molecular structure of cholesteryl esters is an important determinant to the size and internal arrangement of lipoproteins. This is further demonstrated by the structures of lipoprotein particles which lack cholesteryl esters. A natural system, where this is the case, is given by the abnormal lipoprotein Lp-X oc-curing abundantly in the serum of patients suffering from obstructive jaundice or from a familial deficiency in the enzyme lecithin-cholesterol-acyltransferase, which controls the conversion of cho-... 

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