Hereditary fructose intolerance (genetic fructose intolerance)
Conditions
Interventions
None listed
Sponsors
Universiteit Maastricht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Age * 18 years Diagnosis HFI (with the exception of the control groups)
Exclusion criteria
Exclusion criteria: Inability to give informed consent Contraindications for MRS (i.e. claustrophobia, heart pacemaker or other electronic appliances implanted in the body, history of collapse or seizures, or pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Degree of hepatic fat accumulation in patients with HFI and age, sex and BMI matched controls. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Degree of hepatic fibrosis in patients with HFI and age, sex and BMI matched controls. - Lactate response to an oral glucose tolerance test in patients with HFI and age, sex and BMI matched controls. - Changes in fingerpressure during peripheral applanation tonometry in patients with HFI and age, sex and BMI matched controls. - Changes in skin blood flow during laser doppler flowmetry in patients with HFI and age, sex and BMI matched controls. - Carotid-femoral pulse wave velocity in patients with HFI and age, sex and BMI matched controls. - Plasma hepatokines in patients with HFI and age, sex and BMI matched controls, patients with glycogen storage disease 1a (GSD1a) and familial hypobetalipoproteinemia (FHBL). - Plasma lipids, biomarkers of low-grade inflammation and biomarkers of endothelial function in patients with HFI and age, sex and BMI matched controls, patients with GSD1a and FHBL. - Fat distribution (visceral and subcutaneous fat) in patients with HFI and age, sex and BMI matched controls. - 24 hours urinary fructose in patients with HFI and age, sex and BMI matched controls. | — |
Countries
Netherlands
Outcome results
None listed