Five questions about metabolic disorders Metabolic disorders at the heart of Radio 3FM Serious Request

17 December 2024

From December 18 to 24, Radio 3FM Serious Request will take action for Metakids, a foundation supporting children with metabolic disorders, where the body’s metabolism doesn't function properly. At Radboudumc Metabolic Disorders Expertise Center, we treat many children and adults with metabolic disorders. Pediatrician Chris van der Meijden and researcher Dirk Lefeber answer five questions about metabolic disorders.

1. What are metabolic disorders?

Metabolic disorders are a group of conditions where metabolism doesn’t work correctly. Simply put, nutrients like carbohydrates, fats, and proteins are not properly converted by the body. There are about 1900 different metabolic disorders. Although rare individually, together they affect over 10,000 families in the Netherlands. Sometimes in one child, sometimes in multiple family members.

Metabolic disorders can be divided into three main categories. First, disorders where small molecules are not broken down properly, leading to poisoning. The second category involves disorders where large molecules aren’t processed, causing them to build up in the body. The third category includes disorders that disrupt the production of energy from nutrients, depriving organs like the brain of energy.
Anyone can be born with a metabolic disorder. Typically, children inherit a genetic mutation from both parents, who themselves are not sick and don’t know they are carriers. The disorder often comes as a surprise. The severity varies: some children may go deaf, blind, or become mentally or physically disabled. Some may die shortly after birth. One in four patients doesn’t survive past 18.

2. How is a metabolic disorder diagnosed?

Pediatrician Chris van der Meijden explains: ‘The disorder is always congenital, but not always visible at birth. Some babies become seriously ill within days and require immediate treatment. These cases often involve disorders where toxic substances aren’t broken down.’ Some metabolic disorders are detected through the heel prick test. Others become apparent later in childhood, when parents notice developmental delays or problems with hearing, seeing, or movement.

The Radboudumc Metabolic Laboratory performs diagnostics when metabolic disorders are suspected. Professor Dirk Lefeber states: ‘We measure certain substances in the blood and urine to determine whether a patient has a metabolic disorder. We now have techniques that allow us to test thousands of substances in the blood at once. Genetic testing is also increasingly common. The quicker the diagnosis, the better, as we can start treatment sooner and provide patients with support and insight into their future.’

In this photo: pediatrician Metabolic disorders: Chris van der Meijden.

3. Are there treatments for children and adults with a metabolic disorder?

Metabolic disorders cannot be cured, but treatments are available for some patients that reduce symptoms or extend life, such as medical diets or medications. Lefeber explains: ‘Our body needs various substances to function. If one substance is missing, it can sometimes be added through a diet. Or, if a substance isn’t broken down properly, it can be removed from the diet.’

For 85% of metabolic disorders, no medication exists yet. However, care focuses on improving the quality of life. Patients with mitochondrial disorders or glycosylation disorders undergo thorough investigations at Radboudumc, including brain scans, muscle and heart ultrasounds, and consultations with physiotherapists, speech therapists, psychologists, and others. Van der Meijden adds: ‘This approach ensures that patients leave with a treatment plan and follow-up care, especially for those who live far away.’

In this photo: Professor Dirk Lefeber.

4. Is scientific research offering any hope for treatment or cure?

In the Netherlands, the United for Metabolic Diseases (UMD) network of experts and patients is conducting extensive research into treatments for metabolic disorders. The goal is to treat 50% of metabolic disorders within 10 years. Dirk Lefeber studies sugar metabolism disorders. ‘There are many steps involved in converting sugars into useful components to function well, and problems can occur at any stage. We have developed cell models using patient’s own cells to grow brain and heart tissues. We aim to test existing medications on these models,’ he explains, a process called drug repurposing. The advantage is that translation to patients is faster in case of a positive response in cells.

Research into gene therapy, which involves repairing DNA errors, is another promising development. Van der Meijden adds: ‘Gene therapies are advancing in other disorders, and we hope to apply them to metabolic disorders. Several studies are underway, and new treatments for mitochondrial disorders, such as a drug developed by Khondrion, a spin-off from Radboudumc, may offer new hope.’

5. What is happening at Radboudumc and in the Netherlands?

At Radboudumc Amalia Children's Hospital, between 2000 and 3000 patients with metabolic disorders are seen each year. And we see many adults as well. These patients visit Radboudumc Metabolic Disorders Expertise Center, where multidisciplinary collaboration is key.

Given the rarity of these disorders, collaboration with other Dutch centers is essential. Radboudumc works closely with other university medical centers and patients within UMD. The goal is to improve diagnostics, prevention, treatment, and care for patients and families dealing with inherited metabolic disorders through innovative research.

Radboudumc’s actions for Serious Request

Radboudumc sees firsthand the immense impact of living with a metabolic disorder—not just on patients but also on their families and communities. Therefore, Radboudumc employees are also participating in Serious Request activities. Some of the initiatives include:

• Relay race.
• Spinningaction.
• Meditation & donate action.
• Ugly Christmas Sweater Day.
• McArdle Moves for Metakids. 
• Seven Hills Run.
• Cooking action.

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