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Brought to you by the students of the University of Cincinnati College of Medicine

By Erin Armao


Question 5: A 4-month old infant is seen by the pediatrician

He was born on a Wednesday, three days after Christmas. His mother said he was her best present.


for failure to thrive.  Examination shows distinct hepatosplenomegaly.

He was just starting to smile, especially when his daddy blew raspberries on his belly.


Lab results show elevated transaminases and bilirubin,

Out of nowhere he was sick- so sick.  His sister gave him her favorite teddy bear


suggestive of liver failure.  

so he wouldn’t be lonely in his hospital crib.


The boy dies shortly thereafter

And then, suddenly, he was gone.


and upon autopsy, precipitated carbohydrate was found in the liver.

After a while they lifted him-still and pale and impossibly small- from his mother’s arms.


The boy most likely had a mutation in which of the following enzymes?




His name was Jacob.


Lippincott's, Page 99

First Place - First Annual Mentis Writing Contest



Copyright © 2012 Mentis

About the Author:


Erin Armao is a first-year medical student.