Case Study:

A 3-year-old boy is brought to the emergency department after several episodes of vomiting and lethargy (sluggishness). His pediatrician has been concerned about his failure to thrive and possible hepatic failure along with recurrent episodes of the vomiting and lethargy. After careful history is taken, you observe that these episodes occur after ingestion of certain types of food, especially high in fructose. Blood sugar was checked in the emergency department and was extremely low.

1. What is the most likely diagnosis??

2. What is the biochemical basis for the clinical symptoms??

3. What is the treatment for the disorder??

4. Define the following terms:



© Dr. Noel Sturm 2014

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