Treatment of Genetic Diseases Flashcards Preview

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Flashcards in Treatment of Genetic Diseases Deck (13)
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1
Q

Intervention and Substance/ Technique for G6PD Deficiency

A

Avoidance w/ Antimalarial Drugs

2
Q

Intervention and Substance/ Technique for Acute Intermittent Porphyria

A

Avoidance w/ Barbiturates

3
Q

Intervention and Substance/ Technique PKU (Phenylketonuria)

A

Dietary restrictions by avoiding phenylalanine

4
Q

Intervention and Substance/ Technique for Galactosemia

A

Dietary restrictions by avoiding galactose

5
Q

Intervention and Substance/ Technique for Congenital Hypothyroidism

A

Replacement w/ Thyroxine

6
Q

Intervention and Substance/ Technique got Biotinidase Deficiency

A

Replacement w/ Biotin

7
Q

Intervention and Substance/ Technique for Urea cycle Deficiencies

A

Diversion w/ sodium benzoat

8
Q

Intervention and Substance/ Technique for Hypercholesterolemia (heterozygotes)

A

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

9
Q

Intervention and Substance/ Technique for Hypercholesterolemia (homozygotes)

A

Depletion w/ LDL apheresis

10
Q

Tx and Status for Pyridoxine-Responsive Homocystinuria and Biotinidase Deficiency

A

Cofactor administration; 50% of pts will respond

11
Q

Tx and Status for Factor VIII in Hemophilia

A

Replace extracellular protein; well established and effective

12
Q

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

A

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

13
Q

Tx and Status for Gaucher Disease

A

Target intracellular protein; well established, effective