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The door was finally opened to examine newborns with pyridoxine-dependent epilepsy (PDE), which is a severe hereditary metabolic disorder. This test promises to be able to treat the disease better: earlier.

Researchers at Radbud University Medical Center have teamed up with scientists at Radbud University’s FELIX Laser Lab to discover new biomarkets that could be used in a neonatal heel screening protocol. They published their results on The Journal of Clinical Trials,

The discovery and identification of new biomarkers can lead to the completion of protocols in the world of neonatal screening. More than a thousand congenital metabolic diseases (IMD) are currently known, but only 2% of them can be detected by a newborn heel sprain.

Although they are relatively rare as individual disorders, in the Netherlands, every day a baby is born with IMD. These disorders have serious health consequences for patients and are currently one of the leading causes of premature infant mortality in the Netherlands.

Technologies together

Using new methods in our clinical laboratory, where we study the products of chemical processes (metabolism), we were able to detect the presence of compounds in the body fluids of patients that are not present in people unaffected by PDE, which was a great first step. However, we could only find out the exact structure of these compounds, the new PDE biomarkers, using infrared lasers at FELIX.«

Radboud University Medical Center Radbud University Medical Center Laboratory Specialist մասնագետ Laboratory Specialist Carlyen Cohen

This is the first time that an infrared free electron laser, which has a full arm around the world, has been combined with these clinical trials.

Pyridoxine-dependent epilepsy (PDE) is an inherited metabolic disorder characterized by mostly insoluble seizures that do not respond to common antidepressant medications. Seizures are often controlled with high daily doses of vitamin B6, but 80% of affected children still suffer from developmental delays and mental retardation.

Early screening for metabolic diseases is important for optimal treatment. That’s why researchers are constantly looking for new ways to detect metabolic diseases earlier in life through heel bites. These diseases can be identified by looking for small molecules in the blood that are unique to a disease called biomarkets.

Circulating blockages

The discovery and identification of a biomarker is a well-known blockage in the study of metabolic diseases. “To overcome this hurdle, we decided to combine advanced analytical instruments with FELIX Lab infrared lasers,” said Jon Onathan Martens, a researcher at Radbood University FELIX Laboratory. “The measurements obtained with the unique FELIX laser give us information about the connections. between atoms և leads us to the exact molecular structure. “With this information, we were finally able to synthesize the molecules, which allowed us to further study their role in the disease.”

In addition to new opportunities for neonatal screening, this result also uncovered basic insights into the disease, which may eventually lead to optimized treatment and greater opportunities to prevent cognitive disability.

Martens. “Now that we have proven that this new combination of techniques really works, we are actively using our method in the study of a number of other (metabolic) diseases for which bioavailability is currently lacking.”


Radboud University Nijmegen:

Magazine reference:

Engelke, UFG, et al:, (2021) Targeted Metabolism Infrared ion spectroscopy identifies pyridoxine-dependent epilepsy biomarkets. Journal of Clinical Trials,


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