Fructose Intolerance: Test and Diagnosis

2nd order laboratory parameters – depending on the results of the medical history, physical examination, etc.

  • Three mutations A149P, A174D and N334K are responsible for circa 95% of all clinical cases in Europe – genetic alteration in aldolase B gene, this is responsible for loss of enzyme function in kidney and liver.
  • Fructose [increased fructose concentration in blood is found in: hereditary (congenital) fructose intolerance, galactose intolerance and facultatively in essential fructosuria]
  • Elastase in the stool, lipase – in suspected chronic pancreatitis (pancreatitis).
  • Calprotectin – in suspected chronic inflammatory bowel disease.
  • Stool tests – for suspected infections.
  • Prick test – in case of suspected food allergy (pollen-associated NMA).
  • Specific Ig-E serum – for suspected food allergy (cross-reactive NM: spices, celery, house dust).
  • Endomysium antibody (EMA) and transglutaminase antibody (tTG9/ Endomysium IgA and transglutaminase IgA – for suspected celiac disease (gluten-sensitive or gluten-induced enteropathy; gluten intolerance).