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??
Fructose Intolerance
2. What is the biochemical basis for the clinical symptoms??
Fructose is converted to F-1-P by Fructokinase.
F-1-P is converted to DHAP by Aldolase
This patient has a genetic deficiency of Aldolase thus leading to a build-up of
F-1-P
3. What is the treatment for the disorder??
Avoid dietary Fructose
4. Define the following terms:
Disaccharide:
Two monosaccharides attached by a glycosidic bond
Fructokinase:
Converts Fructose à F-1-P
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