You are examining a patient who complains of severe headaches and flushing of the face, neck, and upper chest following the consumption of a glass of white wine. After taking a history, you find that other members of his family also suffer from similar symptoms following alcohol consumption. Given this patient's symptoms and history, which of the following is most likely his associated genotype?

Question

Quizplus · Accepted Answer

The symptoms described are consistent with alcohol flush reaction, commonly associated with the ALDH2*2 allele, which leads to inefficient metabolism of acetaldehyde, a byproduct of alcohol metabolism. The ADH1B*1 allele is common in individuals who experience these symptoms.  Physiological responses to alcohol consumption are influenced by the activities of both the major ethanol-oxidizing ADH and the acetaldehyde-oxidizing ALDH isozymes. Because polymorphisms of ADH and ALDH2 play an important role in determining peak blood acetaldehyde levels and voluntary ethanol consumption, they also influence vulnerability to alcohol dependence. A fast ADH or a slow ALDH are expected to elevate acetaldehyde levels and thus result in rapid onset of undesirable side effects such as flushing, headache, and nausea. The ADH1B*1 allele has the highest rate of ethanol oxidation while the ALDH2*2 allele has little to no activity.

You Are Examining a Patient Who Complains of Severe Headaches