there are still a lot of questions about progression of the disease, impact of medication and potential treatments
Why is research necessary?
The treatment of Tyrosinemia type 1 greatly improved 25 years ago with the introduction of NTBC. If treated with this drug, a low protein diet and extra amino acid mixture resolves most clinical and life expectancy is greatly increased. However, all Tyrosinemia patients still face challenges every day. By doing research we aim to improve the treatment and the life of patients with Tyrosinemia type 1 even more.
Dutch Expert Center for Phenylketonuria and Tyrosinemia type 1:
In the Netherlands there are about 45 patients with Tyrosinemia type 1. Most of the adult patients were not treated with NTBC when they were diagnosed. These patients often get liver transplantation either because of liver failure at a very young age or because of liver cancer. These patients are mostly under the care of the liver transplantation team in Groningen. The Tyrosinemia patients who take NTBC are often seen in Groningen by the metabolic unit. Groningen is the expert center (EC) for Tyrosinemia type 1. Patients who live close to Groningen are seen more regularly.
An EC has some distinct responsibilities. It is important that research is done and published by the EC. In addition, contact with health insurance companies and collaboration with national and international colleagues needs to be maintained. The EC establishes an initial framework and creates conditions to make sure other colleagues in the country can fulfill normal care. The EC does not replace healthcare in university medical centers. However, it is important that many Tyrosinemia patients attend clinic in Groningen to ensure they receive the most updated treatment.
In addition, clinical problems can be recognized earlier. There are already examples of this benefit. In Groningen, it was felt that some patients were prone to cognitive problems. This observation led to a published national and a subsequent ongoing multicountry international study. Another study published through Gronigen by van Vliet et al 2015 dealt with the issue of low phenylalanine concentrations. As a result, healthcare professionals now pay more attention to the phenylalanine concentrations and possible supplementation. The research at the University Medical Center Groningen mainly has two focuses: cerebral development and function in Tyrosinemia type 1 patients and improving treatments.