Lipids Flashcards
Deficiency of Apo B-100, Apo B-48
abetalipoproteinemia
Result of Apo B-100, Apo B-48 deficiency
enterocytes cannot release lipids into lymphatics
decreased chylomicrons
decreased VLDL synthesis
Gene mutation in abetalipoproteinemia
MTP
microsomal transfer protein
Clinical features of abetalipoproteinemia
failure to thrive steatorrhea ADEK malabsorption night blindness (vit A) ataxia (vit A)
RBC pathology of abetalipoproteinemia
acanthocytosis
misshapen, spiky RBC membrain due to lipid problem
Treatment of abetalipoproteinemia
Vit E
Deficiency of lipoprotein lipase (could be due to Apo C-II defect)
Type-I hyperchylomicronemia (autosomal recessive)
Function of lipoprotein lipase
hydrolyzes TAGs found on chylomicrons and VLDL
as a result there is increased chylomicrons and cholesterol in blood
Product of lipoprotein lipase
2 FFA’s, 1 monoacylglycerol
Presentation of type-I hyperchylomicronemia
pancreatitis (increased TAGs)
hepatosplenomegaly
pruritic xanthoma
NO increased risk of atherosclerosis
Absent or decreased LDL receptors
type IIA familial hypercholesterolemia
no LDL receptor = no cholesterol taken in by cells
tendinous xanthomas
corneal arcus
accelerated atherosclerosis (MI risk)
type IIA familial hypercholesterolemia
increased MI risk in younger, otherwise healthy individuals
Overproduction of VLDL in liver: what disease
Type IV hypertriglyceridemia
assoc with increased risk of pancreatitis
Activates LCAT
Apo A-I
Mediates chylomicron secretion
Apo B-48
Mediates VLDL secretion
Apo B-100
Cofactor for lipoprotein lipase
Apo C-II
Mediates uptake of remnant particles
Apo E
binds to LDL receptor
Apo B-100
RLE of fatty acid synthesis
acetyl CoA carboxylase
RLE of fatty acid B-oxidation
carnitine acyltransferase-1/palmitoyl-1
RLE of ketone body synthesis
HMG-CoA synthase
RLE of cholesterol synthesis
HMG-CoA reductase
inhibits RLE of cholesterol synthesis
statins
