Metabolic Treatment Strategies

Question 1

Substrate reduction

Answer 1

Prevent accumulation of toxic substances

Eg PKU

Question 2

Replacement

Answer 2

Add back metabolites, cofactors, or hormones

Eg congenital hypothyroidism

Question 3

Diversion

Answer 3

Enhance the use of alternative metabolic pathways

Eg OTC deficiency, familial hypercholesterolemia (hets)

Question 4

Enzyme inhibition

Answer 4

Block enzyme activity

Eg familial hypercholesterolemia (hets)

Question 5

Receptor antagonisim

Answer 5

Block certain steps in a hyperactivated pathway

Eg Marfan syndrome

Question 6

Depletion

Answer 6

Direct removal of harmful substances

Eg familial hypercholesterolemia (homozygous) to remove LDL