A New Case of Familial LCAT Deficiency
- 1 December 1983
- journal article
- case report
- Published by Wiley in Acta Medica Scandinavica
- Vol. 214 (2), 173-176
- https://doi.org/10.1111/j.0954-6820.1983.tb08591.x
Abstract
Twenty‐eight patients with familial lecithin:cholesterol acyltransferase deficiency have been reported to date. We report a new Italian case who presents the clinical and biochemical characteristics of the disease. Typical disc‐shaped high density lipoproteins (d= 1.063‐1.21 g/ml) were detected by electron microscopy. An abnormal distribution of apolipoproteins in the different lipoprotein fractions was found by sodium dodecyl sulphate polyacrylamide electrophoresis.Keywords
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