Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance

University of Lausanne (UNIL)

Status: Completed

Conditions: Hereditary Fructose Intolerance; Glucose Metabolism Disorders; Fructose Metabolism, Inborn Errors

Treatments: Other: Test meal

Study type: Interventional

Funder types: Other

Identifiers

NCT02979106

PB_2016-00289 (302/14)

Details and patient eligibility

About

Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population. In patients with hereditary fructose intolerance fructose consumption is associated with acute hypoglycemia, renal tubular acidosis, and hyperuricemia.

Objective: We investigated whether asymptomatic carriers for hereditary fructose intolerance (HFI) would have a higher sensitivity to adverse effects of fructose than the general population.

Design: Eight subjects heterozygous for HFI (hHFI; 4 males, 4 females) and eight controls received for 7 days a low fructose diet and on the eighth day ingested a test meal calculated to provide 25% of basal energy requirement containing labeled fructose (13C fructose 0.35 g/kg), protein (0.21 g/kg) and lipid (0.22 g/kg). Total fructose oxidation, total endogenous glucose production (by 6,6-2H2-glucose dilution), carbohydrate and lipid oxidation, lipids, uric acid, lactate, creatinine, urea and amino acids were monitored for 6 hours.

Enrollment: 18 patients

Sex: All

Ages: 18 to 65 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• 8 healthy Volunteers (4 male, 4 female) parents of a child with hereditary fructose intolerance with ALDOB with heterozygous mutation of ALDOB gene
• 8 healthy Volunteers (4 male, 4 female), healthy with no mutation of ALDOB gene

Exclusion criteria

• Fasting glycemia > 7.0 mmol/L
• Fasting total triglycerides > 4.0 mmol/L
• Chronic renal insufficiency (eGFR ≤ 50 ml/min)
• Anemia (ferritin < 20 ug/L, hemoglobin < 13.5 ou 12.5 g/dl)
• Drugs
• Pregnancy

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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18 participants in 1 patient group

oral fructose load

Experimental group

Description:

test meal calculated to provide 25% of basal energy requirement containing 13C-labeled fructose (0.35 g/kg), protein (0.21 g/kg) and lipid (0.22 g/kg).

Treatment:

Other: Test meal