Breakthrough in treatment of hereditary fructose intolerance

Researchers at Maastricht UMC+ have developed a possible treatment for hereditary fructose intolerance. Where patients previously had to follow a strict diet devoid of fruit sugar, a new drug now offers hope for change. During clinical trials, the drug was found to work by blocking the accumulation of toxins in the body. This allowed subjects to consume fruit sugar without symptoms. This is a promising step for such a rare disease, which affects only 200 people in the Netherlands. The impact is significant: patients may be able to lead an everyday life without dietary restrictions in the future.

Although the research is hopeful, further studies are needed to confirm the drug's long-term effectiveness.

Hereditary fructose intolerance

Hereditary fructose intolerance is one of about 1,900 known metabolic diseases in the Netherlands. Whereas this particular condition affects about 200 people in the Netherlands, more than 10,000 Dutch families are affected by some form of metabolic disease. In metabolic diseases, the body's metabolism does not work correctly. According to pediatrician Chris van der Meijden, these disorders are always congenital, with a child usually inheriting an abnormality in the DNA from both parents. The impact of these diseases is significant - about one in four patients does not live past 18 years of age.

Effect of the new treatment

The Maastricht UMC+ research team tested a drug that prevents the accumulation of toxins in the body. Three patients were administered the medicine during the clinical trials and consumed small amounts of fructose. The results were promising: the fructose was excreted faster through the urine in all participants, showing that the drug was effective. More importantly, none of the patients developed symptoms after ingesting fructose.

So far, a strict diet is the only treatment option for patients with hereditary fructose intolerance. This diet is particularly challenging because fruit sugar is not only found in fruits and certain vegetables but is also incorporated into everyday products such as sauces, cookies, soft drinks, and ice cream. Even a tiny amount of fruit sugar can immediately lead to severe symptoms such as abdominal pain and vomiting. In the long term, without proper treatment, the condition can lead to kidney and liver damage with potentially fatal consequences.

Prospects for treatment

This new treatment is part of a broader development within metabolic disease research. Currently, no drug exists for 85% of all metabolic diseases. Professor Dirk Lefeber sets an ambitious goal: to be able to treat 50% of disorders within 10 years. More research is needed before the drug can be widely prescribed for hereditary fructose intolerance. Specifically, it must be investigated whether the drug is also effective in the long term and whether it allows patients to tolerate all foods containing fruit sugar.