Treatment of Genetic Diseases

Question 1

Intervention and Substance/ Technique for G6PD Deficiency

Answer 1

Avoidance w/ Antimalarial Drugs

Question 2

Intervention and Substance/ Technique for Acute Intermittent Porphyria

Answer 2

Avoidance w/ Barbiturates

Question 3

Intervention and Substance/ Technique PKU (Phenylketonuria)

Answer 3

Dietary restrictions by avoiding phenylalanine

Question 4

Intervention and Substance/ Technique for Galactosemia

Answer 4

Dietary restrictions by avoiding galactose

Question 5

Intervention and Substance/ Technique for Congenital Hypothyroidism

Answer 5

Replacement w/ Thyroxine

Question 6

Intervention and Substance/ Technique got Biotinidase Deficiency

Answer 6

Replacement w/ Biotin

Question 7

Intervention and Substance/ Technique for Urea cycle Deficiencies

Answer 7

Diversion w/ sodium benzoat

Question 8

Intervention and Substance/ Technique for Hypercholesterolemia (heterozygotes)

Answer 8

Diversion w/ oral resins, and Inhibition w/statin drugs

Question 9

Intervention and Substance/ Technique for Hypercholesterolemia (homozygotes)

Answer 9

Depletion w/ LDL apheresis

Question 10

Tx and Status for Pyridoxine-Responsive Homocystinuria and Biotinidase Deficiency

Answer 10

Cofactor administration; 50% of pts will respond

Question 11

Tx and Status for Factor VIII in Hemophilia

Answer 11

Replace extracellular protein; well established and effective

Question 12

Tx and Status for alpha-1-Antitrypsin and ADA Deficiency

Answer 12

Replace intracellular protein; beneficial in subset of pts and is well established, and effective

Question 13

Tx and Status for Gaucher Disease

Answer 13

Target intracellular protein; well established, effective