Fructose Supplementation in Carriers for Hereditary Fructose Intolerance

Brief Title

Fructose Supplementation in Carriers for Hereditary Fructose Intolerance

Official Title

Metabolic Effects of Short-term Dietary Supplementation With Fructose in Carriers for Hereditary Fructose Intolerance

Brief Summary

      This study aimed to examine metabolic response to a short-term fructose enriched diet in
      carriers for hereditary fructose intolerance compared to controls. Effects of fructose
      coffees will be assessed in 7 healthy volunteers and 7 subjects with heterozygous mutation
      for ALDOB gene in a randomized, controlled, crossover trial.

Detailed Description

      A high fructose intake also increases blood lactate and uric acid concentrations. It has been
      proposed that uric acid may contribute to insulin resistance by impairing
      endothelium-dependent vasodilation, promoting pro-inflammatory effects and dyslipidemia by
      activating de novo lipogenesis.

      These consequences of fructose overconsumption may be even more marked in individuals with
      hereditary alterations in fructose metabolism. Indeed, individuals with hereditary fructose
      intolerance (HFI), due to biallelic mutations in the gene coding for aldolase B (ALDOB), may
      develop acute, life-threatening manifestations when exposed to fructose. Heterozygous
      carriers of ALDOB mutation are quite common in the general population, with a predicted
      frequency ranging between 1:55 and 1:120. Few studies have examined the effect of fructose
      ingestion in heterozygotes subject for HFI. Heterozygous carriers are generally considered to
      have normal fructose metabolism since a ~ 50% level of aldolase B activity is presumed to be
      sufficient for adequate function. However, heterozygous carriers were reported to have
      enhanced uric acid responses to large intravenous and/or oral fructose loads.

      Investigators hypothesized that heterozygous carriers may also have mild defects of fructose
      metabolism and/or a larger increase in cardiometabolic risk factors than the normal
      population after ingestion of moderate amounts of fructose.

Study Type


Primary Outcome

Metabolite concentration

Secondary Outcome

 Plasma glucose concentration


Hereditary Fructose Intolerance


Experimental diet Fru rich diet

Study Arms / Comparison Groups

 Experimental diet Fru rich diet
Description:  Enriched fructose diet from day 1 to day 7.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

May 1, 2018

Completion Date

April 1, 2019

Primary Completion Date

December 1, 2018

Eligibility Criteria

        Inclusion Criteria:

          -  Case subjects: Heterozygous carriers for ALDOB mutation confirmed by molecular

          -  Control subjects: healthy individuals matched for weight and age to subjects

        Exclusion Criteria:

          -  Fasting glucose > 7.0 mmol/L

          -  Fasting triglycerides > 4.0 mmol/L

          -  Chronic renal insufficiency (eGFR < 50 ml/min)

          -  Drugs

          -  Women who are pregnant or breast feeding

          -  For women: lack of safe contraception

          -  Alcool consumption > 30g/d

          -  Inability to discern




18 Years - 65 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers


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Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

University of Lausanne


 University of Liege

Study Sponsor

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Verification Date

April 2019