2551 - Hereditary fructose intolerance

Material & Volume
  • EDTA Blood, 2ml
  • or oral mucosa (eSwab)
Clinical Information

In hereditary fructose intolerance, a rare enzyme defect, fructose breakdown in the liver is reduced. There is a deficiency of aldolase-B, which leads to an accumulation of fructose-1-phosphate in the liver cells. Instead, only aldolase A is active. This leads to an inhibition of glycolysis, gluconeogenesis and glycogen metabolism, resulting in severe hypoglycaemia. As the condition progresses, severe liver damage up to liver failure occurs.
Note: The clarification of the much more frequent fructose malabsorption (intestinal fructose intolerance) is done with the fructose H2 breath test (see here).

Related analyses
Description Material
Fructose bisphosphate aldolase-1.6 A149P EDTA Blood
Fructose bisphosphate aldolase-1.6 A174D EDTA Blood
Fructose bisphosphate aldolase-1.6 N334K EDTA Blood
Index
Synonyms
Product names
Analyses groups
etc.
  • Mutation in aldolase B Gen: A149P, A174D, N334K
  • Fructose intolerance
  • Fruktoseintoleranz
  • HFI
Position / Price
Position: No mandatory provision
Price: CHF 154.00
+ Processing fee:
(per order and per day)
CHF 21.60
Executing laboratory
labor team w ag
Blumeneggstrasse 55
9403 Goldach
Execution time
1 day
Contact
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