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The door has finally opened on screening newborn babies for pyridoxine-dependent epilepsy (PDE), a severe inherited metabolic disorder. This screening promises to enable better and earlier treatment of the disease. To identify new biomarkers that can be used in the newborn screening protocol, also known as the neonatal heel prick, researchers at the Radboud University Medical Center joined forces with scientists at the Radboud University s FELIX laser laboratory. They published their findings in The
Journal of Clinical Investigation.
The discovery and identification of the new biomarkers could lead to an important addition to worldwide newborn screening protocols. Currently, there are over a thousand known inborn metabolic diseases (IMD), but only 2% of them can be detected through the neonatal heel prick. While these are relatively rare as individual disorders, in the Netherlands, every other day a child is born with an IMD. These disorders have severe health consequenc
Biomarker discovery can open door to screening newborn babies for pyridoxine-dependent epilepsy
The door has finally opened on screening newborn babies for pyridoxine-dependent epilepsy (PDE), a severe inherited metabolic disorder. This screening promises to enable better and earlier treatment of the disease.
To identify new biomarkers that can be used in the newborn screening protocol, also known as the neonatal heel prick, researchers at the Radboud University Medical Center joined forces with scientists at the Radboud University s FELIX laser laboratory. They published their findings in The
Journal of Clinical Investigation.
The discovery and identification of the new biomarkers could lead to an important addition to worldwide newborn screening protocols. Currently, there are over a thousand known inborn metabolic diseases (IMD), but only 2% of them can be detected through the neonatal heel prick.