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Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Pharmacogenetics

Options:

  1. CYP2C9
  2. Glucose-6-phosphate dehydrogenase (G6PD)
  3. PROTO-oxidase
  4. Pseudocholinesterase
  5. Ryanodine receptor

The following patients have an inherited predisposition to drug-induced disease. Select the enzyme or gene in which the basic defect lies from the available options.

1
Scenario 1

 
This woman has pseudocholinesterase deficiency. This enzyme converts succinylcholine, a commonly used muscle relaxant, to its inactive metabolite. See Page 229.Incorrect. See Page 229.Your answer has been saved.
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2
Scenario 2

 
This man has a history suggestive of a form of porphyria. PROTO-oxidase (= protoporphyrinogen oxidase) is the enzyme deficient in variegate porphyria. See Page 218 and 229.Incorrect. See Page 218 and 229.Your answer has been saved.
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3
Scenario 3

 
This is a typical presentation of G6PD deficiency. See Page 227.Incorrect. See Page 227.Your answer has been saved.
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4
Scenario 4

 
This woman has malignant hyperthermia. This condition shows locus heterogeneity, with mutations in the ryanodine receptor gene accounting for approximately 50% of cases. See Page 228.Incorrect. See Page 228.Your answer has been saved.
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5
Scenario 5

 
This man has inherited allelic variants in the CYP2C9 gene which make him a slow metabolizer of warfarin. See Page 226.Incorrect. See Page 226.Your answer has been saved.
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