The case of the Greek Icteric Patient


 

Question CM-03

 

 

                                 Athens, Acropolis, Parthenon. Photo from Wallyg, Flickr

                                

 

 

G. Stepanopoulos, a 21 year-old male patient, son of  the president of the Greek association in your town, attend to your office because of the presence of dark urine and a slight yellow color in his skin. At the exam, you detect jaundice and splenomegaly.  During the interview, the patient refers that a week ago, he had some “migraine” crisis during a few days and he began to take great quantity of analgesics.

 

The headaches disappeared but his skin and eyes became yellowish, a problem that he know have happened in his family when they ate some kind of beans, but that he had never experienced before.

 

A mutation in which of the following enzymes would be the most probable cause of this situation?

 

a)     Glucokinase

 

b)     Glucose 6 phosphate dehydrogenase

 

c)      Pyruvate quinase

 

d)     Glutamate Oxalacetate Aminotransferase

 

e)     Galactokinase

 

f)       Aldolase II

 

g)     Glucuronyl transferase

 

h)    Hem synthase

 

i)       Hem oxidase

 

 

3 thoughts on “The case of the Greek Icteric Patient

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