<unk><unk><unk>  <unk>  is an enzyme with 2 subunits catalyzing the esterification of free<unk>  into<unk>  esters, an important step in the reverse<unk>  transport.<unk>  deficiency is a monogenic autosomal recessive disease resulting from mutation in the<unk>  gene on chromosome number 16. Patients with homozygous and compound heterozygous mutations are symptomatic due to the accumulation of excessive free<unk>  in the cornea, RBC cell membrane and the kidney.<unk>  deficiency is classified into Familial<unk>  deficiency(FLD) and Fish Eye Disease (FED) based on the degree of the enzyme function lost. The characteristic feature of these diseases is low plasma HDL C. FLD is a severe form with low HDL C and increase in LDL type protein called lipoprotein-X causing progressive renal failure, FED has a benign course with corneal opacities and low HDL C alone. Low HDL is a risk factor for development of cardiovascular disease,but the risk of developing atherosclerosis and cardiovascular disease in<unk>  deficiency is still not well defined and is controversial.
Lecithin cholesterol acyltransferase deficiency
Apolipoprotein A deficiency
Apolipoprotein B deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase deficiency
Inborn error of lipid metabolism
Pyruvate kinase deficiency