Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family
B Idzior-Waluś, J Sieradzki, G Kostner, MT Małecki… - Atherosclerosis, 2006 - Elsevier
Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities,
anaemia and proteinuria with renal failure. Here we report detailed analyses on plasma
lipids, lipoproteins, and the molecular defect in two siblings from a Polish family presenting
classical symptoms of FLD and their family members with newly discovered Val309Met
mutation in exon 6 of LCAT gene. Both patients displayed low total (2.19 and 2.94 mmol/l)
and HDL-cholesterol concentrations (0.52 and 0.48 mmol/l), low percentage of cholesteryl …
anaemia and proteinuria with renal failure. Here we report detailed analyses on plasma
lipids, lipoproteins, and the molecular defect in two siblings from a Polish family presenting
classical symptoms of FLD and their family members with newly discovered Val309Met
mutation in exon 6 of LCAT gene. Both patients displayed low total (2.19 and 2.94 mmol/l)
and HDL-cholesterol concentrations (0.52 and 0.48 mmol/l), low percentage of cholesteryl …