Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency) Differential Diagnoses

Updated: Oct 15, 2019
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

The overlap of gastrointestinal symptoms, such as severe abdominal pain and diarrhea combined with poor growth in young children, has led to reports of a condition known as "fructose intolerance" in association with intestinal fructose malabsorption. This condition is important to distinguish clearly from genetic fructose 1-phosphate aldolase deficiency, although results of breath hydrogen testing are controversial in diagnosis.

It has been postulated that fructose malabsorption may be a consequence of abnormalities in the intestinal GLUT5 transporter, although the results of molecular investigations are inconsistent. However, the imperative to making a correct diagnosis distinction is the ongoing hepatic damage seen in hereditary fructose intolerance (HFI), even in the presence of trace amounts of dietary fructose. [14]