In early January 2026, UMC Utrecht officially opened its new centre for hereditary metabolic diseases for children and adults. Paediatricians at the Wilhelmina Children’s Hospital have been providing intensive, specialised care to children with rare hereditary metabolic diseases for many years. And within UMC Utrecht, internists are also involved in treating these growing patients.
Metabolic disorders are hereditary diseases; you are born with them. They are also rare and there are many different types. Each metabolic disorder manifests itself differently. Common symptoms include developmental or growth retardation, epilepsy, muscle weakness, heart or liver failure, or fatigue. The symptoms can be very severe or mild. Treatment and testing will vary considerably depending on which hereditary metabolic disorder a patient has.
‘Thanks to improved treatments, more and more children with metabolic disorders are living longer and healthier lives,’ says Peter van Hasselt, paediatrician specialising in metabolic disorders. ‘In addition, we are increasingly diagnosing these conditions in adulthood.’ To provide proper support to the growing group of adult patients, internists at UMC Utrecht now also offer specialised adult care for metabolic diseases. With the opening of the centre, the collaboration between paediatricians and internists has become official.
The transition from paediatric to adult care is often a stressful time for patients and parents. The new centre makes this transition smoother. ‘We literally run our clinics side by side,’ says internist Bram Vrijsen. ‘That makes it easy to pop in and keep the transfer process accessible.’ The dieticians from paediatric and adult care are also involved in this process. Nurse specialist in training Viktoria Weiler adds: ‘We know that the transition can be emotionally challenging. That’s why, as a team, we pay a lot of attention to ensuring a warm handover and discuss important issues in good time.’
The integration of paediatric and adult care delivers more than just smooth transitions. Paediatrician Eva Hoytema van Konijnenburg and AIOS internal medicine resident Lotte Koopal: ‘The centre provides opportunities for cross-pollination between the expertise of paediatricians, such as growth, development and puberty, and areas where internists have more expertise, such as pregnancy, co-morbidity and age-related diseases.’
In addition, it creates a unique opportunity to follow patients over the long term. ‘This allows us to learn more about the natural course of disease and the long-term effects of current and future treatments such as genetic therapies,’ says Professor Sabine Fuchs. ‘This is crucial to further improving care for future generations.’
The new centre represents an important step towards future-proof, integrated care for patients with hereditary metabolic diseases. It is a centre where care, knowledge and research come together and where the patient truly takes centre stage.
