Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.

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.

[Analytical problems of iodine defficiency examination in Polish Nation-wide deficit control program].

The environmental iodine deficiency has been a serious problem in the Polish health care system for many years. In many European countries the prevention of iodine deficiency-related health deficits in population scale is based on edible salt supplementation with KI. In the decade of the 80-ties the iodine supplementation program in Poland was stopped, which has caused a subsequent increase in prevalence of goiter and iodine deficiency-related hypothyreosis.