Fabry's disease
Niemann-Pick disease
Krabbe's disease
Gaucher's disease
Hurler syndrome
Heme
Purines
Pyrimidines
Ketone bodies
Glutathione
Integral membrane proteins
Glycosyl transferases
Peripheral membrane proteins
Cytoskeletal proteins
Phosphoglyceride-synthesizing enzymes
A low ratio of free cholesterol/cholesterol esters
An elevated glucose level
A low lecithin/shingomyelin ratio
An elevated level of phosphatidylglycerol
A reduced level of platelet-activating factor
Glucocerebrosidase
Hexosaminidase A
Iduronate sulfatase
Ceramidase
B-galactosidase
IDL
LDL
HDL
VLDL
Lipoprotein(a)
Enhanced VLDL formation in the liver
Down-regulation of HMG-CoA reductase
Higher lipoprotein lipase (LPL) activity
Higher plasma chylomicron concentration
An increased number of LDL receptors
Type I
Type III
Type IIb
Type IIa
Type IV
Add cholesterol esters to the medium
Add excess LDL to the medium
Inhibit HMG-CoA reductase
Inhibit the activity of acyl-CoA-cholesterol-acyl transferase (ACAT)
Add cholestyramine
A-I
C-II
B-100
C-III
E
Type I
Type V
Type III
Type IV
Type IIa
By reducing the synthesis of apo B-100, the major structural protein of VLDL and LDL
By stimulating the conversion of excess cholesterol to bile acids in the liver, thereby depleting cholesterol for LDL synthesis
By stimulating the transfer of cholesterol esters from VLDL and LDL to HDL
By inhibiting HMG-CoA reductase, thereby preventing cholesterol synthesis and forcing the cells to obtain their cholesterol from LDL
By stimulating the efflux of free cholesterol from cell membranes to HDL, thereby reducing the amount of cholesterol that is partitioned into LDL
Look for eruptive xanthomas
Do a VLDL analysis
Isolate the patient's lymphocytes and look for the number of LDL receptors
Check for hyperthyroidism
Do a fasting blood glucose
Cholesterol ester transfer protein
Acyl-CoA-cholesterol acyltransferase (ACAT)
7a-hydroxylase
HMG-CoA reductase
Lecithin-cholesterol acyltransferase (LCAT)
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