Lipoprotein Disorders

Familial Hypercholesterolemia(Type 2A) defective or deficient LDL receptors • Familial Dystbetalipoproteinemia ( Type 3 accumulation of plasma VLDL rich in cholesterol VLDL fraction migrates abnormally in beta region Beta VLDL Abetalipoproteinemia Bassen Kornzweig Syndrome) defective apo B synthesis VLDL, LDL, CM = absent in plasma deficient Vitamins A,E,K; Vit D is not affected • Tangier’s Disease complete absence of HDL due to mutation in the ABCA1 gene on chromosome 9 • Tay Sachs Disease neurodegenerative disorder of lipid metabolism characterized by a deficiency of the enzyme Hexosaminidase A = accumulation of sphingolipids in brain