Hereditary fructose intolerance (HFI) is a rare inborn disease. Patients with HFI do not tolerate any fructose (a simple sugar present in fruits, some vegetables and almost all processed foods): upon ingestion they become ill. It may even lead to organ damage and death.
It has been estimated the one in every 20.000 newborns is affected by HFI. However, it may be that not all individuals who carry the DNA mutation also develop symptoms. This is what we would like to study in the UK Biobank.
We already know that there are ten participants in the UK Biobank who have this DNA mutation. We would like to know if all these ten individuals avoid fructose-containing food products. If so, we can conclude that all individuals who carry the DNA mutation always develop symtoms of the disease (resulting in the avoidance of fructose). Such a result would have important consequences. It would for example justify newborn screening for this rare disease.
